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Volumn 45, Issue 1, 1999, Pages 59-64

Pelizaeus-Merzbacher disease: Three novel mutations and implication for locus heterogeneity

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; DISULFIDE; GUANINE; LEUCINE; PROTEOLIPID PROTEIN; THYMINE; TYROSINE;

EID: 0032925852     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199901)45:1<59::AID-ART11>3.0.CO;2-3     Document Type: Article
Times cited : (27)

References (53)
  • 1
    • 0001473673 scopus 로고
    • Pelizaeus-Merzbacher disease
    • Vinken PJ, Bruyn GW, eds. Amsterdam: North-Holland
    • Seitelberger F. Pelizaeus-Merzbacher disease. In: Vinken PJ, Bruyn GW, eds. Handbook of clinical neurology, vol 10. Amsterdam: North-Holland, 1970:150-202
    • (1970) Handbook of Clinical Neurology , vol.10 , pp. 150-202
    • Seitelberger, F.1
  • 2
    • 0024392732 scopus 로고
    • Pelizaeus-Merzbacher disease: Tight linkage to proteolipid protein gene exon variant
    • Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM. Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant. Proc Natl Acad Sci USA 1989;86:9427-9430
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 9427-9430
    • Trofatter, J.A.1    Dlouhy, S.R.2    Demyer, W.3    Conneally, P.M.4
  • 4
    • 0028240173 scopus 로고
    • Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease
    • Ellis D, Malcolm S. Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease. Nat Genet 1994;6:333-334
    • (1994) Nat Genet , vol.6 , pp. 333-334
    • Ellis, D.1    Malcolm, S.2
  • 5
    • 0029980998 scopus 로고    scopus 로고
    • A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
    • Inoue K, Osaka H, Sugiyama N, et al. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 1996;58:32-39
    • (1996) Am J Hum Genet , vol.58 , pp. 32-39
    • Inoue, K.1    Osaka, H.2    Sugiyama, N.3
  • 6
    • 0027986675 scopus 로고
    • Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice
    • Boison D, Stoffel W. Disruption of the compacted myelin sheath of axons of the central nervous system in proteolipid protein-deficient mice. Proc Natl Acad Sci USA 1994;91: 11709-11713
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 11709-11713
    • Boison, D.1    Stoffel, W.2
  • 7
    • 0029079396 scopus 로고
    • Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein
    • Schneider A, Griffiths IR, Readhead C, Nave K-A. Dominant-negative action of the jimpy mutation in mice complemented with an autosomal transgene for myelin proteolipid protein. Proc Natl Acad Sci USA 1995;92:4447-4451
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 4447-4451
    • Schneider, A.1    Griffiths, I.R.2    Readhead, C.3    Nave, K.-A.4
  • 8
    • 0031037761 scopus 로고    scopus 로고
    • Assembly of CNS myelin in the absence of proteolipid protein
    • Klugmann M, Schwab MH, Pühlhofer A, et al. Assembly of CNS myelin in the absence of proteolipid protein. Neuron 1997;18:59-70
    • (1997) Neuron , vol.18 , pp. 59-70
    • Klugmann, M.1    Schwab, M.H.2    Pühlhofer, A.3
  • 9
    • 0028287054 scopus 로고
    • Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein
    • Gow A, Friedrich VL Jr, Lazzarini RA. Intracellular transport and sorting of the oligodendrocyte transmembrane proteolipid protein. J Neurosci Res 1994;37:563-573
    • (1994) J Neurosci Res , vol.37 , pp. 563-573
    • Gow, A.1    Friedrich V.L., Jr.2    Lazzarini, R.A.3
  • 10
    • 0030036917 scopus 로고    scopus 로고
    • A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease
    • Gow A, Lazzarini RA. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease. Nat Genet 1996;13: 422-428
    • (1996) Nat Genet , vol.13 , pp. 422-428
    • Gow, A.1    Lazzarini, R.A.2
  • 11
    • 0023036672 scopus 로고
    • Pelizaeus-Merzbacher disease: Clinical and nosological study
    • Boulloche J, Aicardi J. Pelizaeus-Merzbacher disease: clinical and nosological study. J Child Neurol 1986;1:233-239
    • (1986) J Child Neurol , vol.1 , pp. 233-239
    • Boulloche, J.1    Aicardi, J.2
  • 13
    • 0029073179 scopus 로고
    • Dinucleotide repeat polymorphism in the proteolipid protein (PLP) gene
    • Mimault C, Cailloux F, Giraud G, et al. Dinucleotide repeat polymorphism in the proteolipid protein (PLP) gene. Hum Genet 1995;96:236
    • (1995) Hum Genet , vol.96 , pp. 236
    • Mimault, C.1    Cailloux, F.2    Giraud, G.3
  • 14
    • 0028907531 scopus 로고
    • MvaI polymorphism in the proteolipid protein (PLP) gene
    • Osaka H, Inoue K, Kawanishi C, et al. MvaI polymorphism in the proteolipid protein (PLP) gene. Hum Genet 1995;95:461
    • (1995) Hum Genet , vol.95 , pp. 461
    • Osaka, H.1    Inoue, K.2    Kawanishi, C.3
  • 15
    • 1842295717 scopus 로고    scopus 로고
    • A new restriction-site polymorphism in the human proteolipid protein gene
    • Kawanishi C, Osaka H, Inoue K, et al. A new restriction-site polymorphism in the human proteolipid protein gene. Clin Genet 1997;51:75
    • (1997) Clin Genet , vol.51 , pp. 75
    • Kawanishi, C.1    Osaka, H.2    Inoue, K.3
  • 16
    • 0031015929 scopus 로고    scopus 로고
    • Mutations in the proteolipid protein gene in two Japanese families with Pelizaeus-Merzbacher disease
    • Inoue K, Osaka H, Kawanishi C, et al. Mutations in the proteolipid protein gene in two Japanese families with Pelizaeus-Merzbacher disease. Neurology 1997;48:283-285
    • (1997) Neurology , vol.48 , pp. 283-285
    • Inoue, K.1    Osaka, H.2    Kawanishi, C.3
  • 17
    • 0030957559 scopus 로고    scopus 로고
    • A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease
    • Kawanishi C, Osaka H, Owa K, et al. A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease. Hum Mutat 1997;9:475-476
    • (1997) Hum Mutat , vol.9 , pp. 475-476
    • Kawanishi, C.1    Osaka, H.2    Owa, K.3
  • 18
    • 0026980191 scopus 로고
    • Proteolipid protein (PLP) of CNS myelin: Positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP
    • Weimbs T, Stoffel W. Proteolipid protein (PLP) of CNS myelin: positions of free, disulfide-bonded, and fatty acid thioester-linked cysteine residues and implications for the membrane topology of PLP. Biochemistry 1992;31:12289-12296
    • (1992) Biochemistry , vol.31 , pp. 12289-12296
    • Weimbs, T.1    Stoffel, W.2
  • 19
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90: 41-54
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 20
    • 34250558979 scopus 로고
    • Ueber eine eigentümliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (multiple Sklerose)
    • Pelizaeus F. Ueber eine eigentümliche Form spastischer Lähmung mit Cerebralerscheinungen auf hereditärer Grundlage (multiple Sklerose). Arch Psychiatr 1885;16:698-710
    • (1885) Arch Psychiatr , vol.16 , pp. 698-710
    • Pelizaeus, F.1
  • 21
    • 52449138850 scopus 로고
    • Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticalis congenita)
    • Merzbacher L. Eine eigenartige familiäre Erkrankungsform (Aplasia axialis extracorticalis congenita). Z Gesamte Neurol Psychiatr 1910;3:1-138
    • (1910) Z Gesamte Neurol Psychiatr , vol.3 , pp. 1-138
    • Merzbacher, L.1
  • 22
    • 0344248890 scopus 로고    scopus 로고
    • World Wide Web URL
    • Online Mendelian Inheritance in Man OT. The Human Genome Data Base Project. World Wide Web URL: http:// gdbwww. gdb.org/omin/docs/omimtop.html. 1998
    • (1998) The Human Genome Data Base Project
  • 23
    • 0025869762 scopus 로고
    • Pelizaeus-Merzbacher disease: Classical or connatal?
    • Scheffer IE, Baraitser M, Wilson J, et al. Pelizaeus-Merzbacher disease: classical or connatal? Neuropediatrics 1991;22:71-78
    • (1991) Neuropediatrics , vol.22 , pp. 71-78
    • Scheffer, I.E.1    Baraitser, M.2    Wilson, J.3
  • 24
    • 0028239867 scopus 로고
    • X-linked spastic paraplegia and Pelizeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
    • Saugier-Veber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet 1994;6:257-262
    • (1994) Nat Genet , vol.6 , pp. 257-262
    • Saugier-Veber, P.1    Munnich, A.2    Bonneau, D.3
  • 25
    • 0028794116 scopus 로고
    • Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males
    • Osaka H, Kawanishi C, Inoue K, et al. Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. Biochem Biophys Res Commun 1995;125:835-841
    • (1995) Biochem Biophys Res Commun , vol.125 , pp. 835-841
    • Osaka, H.1    Kawanishi, C.2    Inoue, K.3
  • 26
    • 0031042927 scopus 로고    scopus 로고
    • Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease
    • Hodes ME, Blank CA, Pratt VM, et al. Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease. Am J Med Genet 1997;69:121-125
    • (1997) Am J Med Genet , vol.69 , pp. 121-125
    • Hodes, M.E.1    Blank, C.A.2    Pratt, V.M.3
  • 27
    • 0007634182 scopus 로고
    • The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease
    • Abstract
    • Bridge PJ, Wilkins PJ, The role of proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. Am J Hum Genet 1992;52(Suppl):A209 (Abstract)
    • (1992) Am J Hum Genet , vol.52 , Issue.SUPPL.
    • Bridge, P.J.1    Wilkins, P.J.2
  • 28
    • 0028859889 scopus 로고
    • A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease
    • Pratt VM, Naidu S, Dlouhy SR, et al. A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease. Neurology 1995;45:394-395
    • (1995) Neurology , vol.45 , pp. 394-395
    • Pratt, V.M.1    Naidu, S.2    Dlouhy, S.R.3
  • 29
    • 0026348463 scopus 로고
    • Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease
    • Raskind WH, Williams CA, Hudson LD, Bird TD. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease. Am J Hum Genet 1991; 49:1355-1360
    • (1991) Am J Hum Genet , vol.49 , pp. 1355-1360
    • Raskind, W.H.1    Williams, C.A.2    Hudson, L.D.3    Bird, T.D.4
  • 30
    • 0030769418 scopus 로고    scopus 로고
    • Proteolipid protein is necessary in peripheral as well as central myelin
    • Garbern JY, Combi F, Tang X-M, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 1997; 19:202-218
    • (1997) Neuron , vol.19 , pp. 202-218
    • Garbern, J.Y.1    Combi, F.2    Tang, X.-M.3
  • 31
    • 0030020210 scopus 로고    scopus 로고
    • A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family
    • Sistermans EA, de Wijs IJ, de Coo RFM, et al. A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family. Hum Genet 1996;97:337-339
    • (1996) Hum Genet , vol.97 , pp. 337-339
    • Sistermans, E.A.1    De Wijs, I.J.2    De Coo, R.F.M.3
  • 32
    • 0027715430 scopus 로고
    • A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease
    • Strautnieks S, Malcolm S. A G to T mutation at a splice site in a case of Pelizaeus-Merzbacher disease. Hum Mol Genet 1993; 2:2191-2192
    • (1993) Hum Mol Genet , vol.2 , pp. 2191-2192
    • Strautnieks, S.1    Malcolm, S.2
  • 33
    • 0023642615 scopus 로고
    • An AG→GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon
    • Macklin WB, Gardinier MV, King KD, Kampf K. An AG→GG transition at a splice site in the myelin proteolipid protein gene in jimpy mice results in the removal of an exon. FEBS Lett 1987;223:417-421
    • (1987) FEBS Lett , vol.223 , pp. 417-421
    • Macklin, W.B.1    Gardinier, M.V.2    King, K.D.3    Kampf, K.4
  • 34
    • 0022889377 scopus 로고
    • Jimpy mutant mouse: A 74-base deletion in the mRNa for myelin proteolipid protein and evidence for a primary defect in RNa splicing
    • Nave K-A, Lai C, Bloom FE, Milner RJ. Jimpy mutant mouse: a 74-base deletion in the mRNA for myelin proteolipid protein and evidence for a primary defect in RNA splicing. Proc Natl Acad Sci USA 1986;83:9264-9268
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 9264-9268
    • Nave, K.-A.1    Lai, C.2    Bloom, F.E.3    Milner, R.J.4
  • 35
    • 0029127508 scopus 로고
    • Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths
    • Boison D, Büssow H, D'Urso D, et al. Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths. J Neurosci 1995;15:5502-5513
    • (1995) J Neurosci , vol.15 , pp. 5502-5513
    • Boison, D.1    Büssow, H.2    D'Urso, D.3
  • 36
    • 0029080845 scopus 로고
    • Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus
    • Pratt VM, Boyadjiev, Green K, et al. Pelizaeus-Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great-grandfather of the propositus. Am J Med Genet 1995;58:70-73
    • (1995) Am J Med Genet , vol.58 , pp. 70-73
    • Pratt, V.M.1    Boyadjiev2    Green, K.3
  • 37
    • 0024330420 scopus 로고
    • Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
    • Hudson LD, Puckett C, Berndt J, et al. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder. Poe Natl Acad Sci USA 1989;86:8128-8131
    • (1989) Poe Natl Acad Sci USA , vol.86 , pp. 8128-8131
    • Hudson, L.D.1    Puckett, C.2    Berndt, J.3
  • 38
    • 0024419974 scopus 로고
    • Pelizaeus-Merzbacher disease: An X-linked neurologie disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
    • Gencic S, Abuelo D, Ambler M, Hudson LD. Pelizaeus-Merzbacher disease: an X-linked neurologie disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. Am J Hum Genet 1989;45:435-442
    • (1989) Am J Hum Genet , vol.45 , pp. 435-442
    • Gencic, S.1    Abuelo, D.2    Ambler, M.3    Hudson, L.D.4
  • 39
    • 0028954678 scopus 로고
    • Pelizaeus-Merzbacher disease in a family of portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene
    • Pratt VM, Boyadjiev S, Dlouhy SR, et al. Pelizaeus-Merzbacher disease in a family of portuguese origin caused by a point mutation in exon 5 of the proteolipid protein gene. Am J Med Genet 1995;55:402-404
    • (1995) Am J Med Genet , vol.55 , pp. 402-404
    • Pratt, V.M.1    Boyadjiev, S.2    Dlouhy, S.R.3
  • 40
    • 0027394845 scopus 로고
    • A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
    • Iwaki A, Muramoto T, Iwaki I, et al. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 1993;2: 19-22
    • (1993) Hum Mol Genet , vol.2 , pp. 19-22
    • Iwaki, A.1    Muramoto, T.2    Iwaki, I.3
  • 41
    • 0028969904 scopus 로고
    • Pelizaeus-Merzbacher disease: A point mutation in exon 6 of the proteolipid protein (PLP) gene
    • Pratt VM, Dlouhy SR, Hodes ME. Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene. Clin Genet 1995;47:99-100
    • (1995) Clin Genet , vol.47 , pp. 99-100
    • Pratt, V.M.1    Dlouhy, S.R.2    Hodes, M.E.3
  • 42
    • 0025745185 scopus 로고
    • Pelizaeus-Merzbacher disease: A valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid
    • Pham-Dinh D, Popot J-L, Boespflug-Tanguy O, et al. Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid. Proc Natl Acad Sci USA 1991;88:7562-7566
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 7562-7566
    • Pham-Dinh, D.1    Popot, J.-L.2    Boespflug-Tanguy, O.3
  • 43
    • 0030743093 scopus 로고    scopus 로고
    • Myelin proteolipid DM 20: Evidence for function independent of myelination
    • Nadon NL, Miller S, Draeger K, Salvaggio M. Myelin proteolipid DM 20: evidence for function independent of myelination. Int J Dev Neurosci 1997;15:285-293
    • (1997) Int J Dev Neurosci , vol.15 , pp. 285-293
    • Nadon, N.L.1    Miller, S.2    Draeger, K.3    Salvaggio, M.4
  • 44
    • 0031025729 scopus 로고    scopus 로고
    • Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath
    • Gow A, Gragerov A, Gard A, et al. Conservation of topology, but not conformation, of the proteolipid proteins of the myelin sheath. J Neurosci 1997;17:181-189
    • (1997) J Neurosci , vol.17 , pp. 181-189
    • Gow, A.1    Gragerov, A.2    Gard, A.3
  • 45
    • 0030246987 scopus 로고    scopus 로고
    • 0, the major structural protein of peripheral nerve system
    • 0, the major structural protein of peripheral nerve system. Neuron 1996;17:435-449
    • (1996) Neuron , vol.17 , pp. 435-449
    • Shapiro, L.1    Doyle, J.P.2    Hensley, P.3
  • 46
    • 16044362374 scopus 로고    scopus 로고
    • 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
    • 0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Apple, S.H.3
  • 47
    • 0029793042 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease and related inherited neuropathies
    • Murakami T, Garcia CA, Reiter LT, Lupski JR. Charcot-Marie-Tooth disease and related inherited neuropathies. Medicine 1996;75:233-250
    • (1996) Medicine , vol.75 , pp. 233-250
    • Murakami, T.1    Garcia, C.A.2    Reiter, L.T.3    Lupski, J.R.4
  • 48
    • 0031943222 scopus 로고    scopus 로고
    • Mutations in the early growth response 2 (ERG2) gene are associated with hereditary myelinopathies
    • Warner LE, Mancias P, Butler IJ, et al. Mutations in the early growth response 2 (ERG2) gene are associated with hereditary myelinopathies. Nat Genet 1998;18:382-384
    • (1998) Nat Genet , vol.18 , pp. 382-384
    • Warner, L.E.1    Mancias, P.2    Butler, I.J.3
  • 49
    • 0023415624 scopus 로고
    • Connatal Pelizaeus-Merzbacher disease: An autosomal recessive form
    • Cassidy SB, Sheehan NC, Farrell DF, et al. Connatal Pelizaeus-Merzbacher disease: an autosomal recessive form. Pediatr Neurol 1987;3:300-305
    • (1987) Pediatr Neurol , vol.3 , pp. 300-305
    • Cassidy, S.B.1    Sheehan, N.C.2    Farrell, D.F.3
  • 50
    • 0029917560 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease: Female case report
    • Nezu A, Kimura S, Uehara S, et al. Pelizaeus-Merzbacher-like disease: female case report. Brain Dev 1996;18:114-118
    • (1996) Brain Dev , vol.18 , pp. 114-118
    • Nezu, A.1    Kimura, S.2    Uehara, S.3
  • 51
    • 0028142316 scopus 로고
    • Genetic homogeneity of Pelizaeus-Merzbacher disease: Tight linkage to the proteolipid protein locus in 16 affected families
    • Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Pelizaeus-Merzbacher disease: tight linkage to the proteolipid protein locus in 16 affected families. Am J Hum Genet 1994;55:461-467
    • (1994) Am J Hum Genet , vol.55 , pp. 461-467
    • Boespflug-Tanguy, O.1    Mimault, C.2    Melki, J.3
  • 52
    • 0345542549 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene (PLP) is a frequent cause of Pelizaeus-Merzbacher disease
    • Abstract
    • Sistermans EA, de Wijs IJ, de Coo IFM, van Oost BA. Duplication of the proteolipid protein gene (PLP) is a frequent cause of Pelizaeus-Merzbacher disease. Am J Hum Genet 1996; 59(Suppl):A10 (Abstract)
    • (1996) Am J Hum Genet , vol.59 , Issue.SUPPL.
    • Sistermans, E.A.1    De Wijs, I.J.2    De Coo, I.F.M.3    Van Oost, B.A.4
  • 53
    • 0030869978 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher-like disease: Exclusion of the proteolipid protein locus and documentation of a new locus on Xq
    • Lazzarini A, Schwarz KO, Jiang S, et al. Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq. Neurology 1997;49:824-832
    • (1997) Neurology , vol.49 , pp. 824-832
    • Lazzarini, A.1    Schwarz, K.O.2    Jiang, S.3


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