메뉴 건너뛰기




Volumn 68, Issue 5, 2005, Pages 466-467

Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease

Author keywords

Gene duplication; PCR; PMD; Real time

Indexed keywords

PROTEOLIPID PROTEIN;

EID: 27544432163     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00522.x     Document Type: Article
Times cited : (8)

References (12)
  • 1
    • 0141893575 scopus 로고    scopus 로고
    • Pelizaeus-Merzbacher disease and spastic paraplegia type 2: Two faces of myelin loss from mutations in the same gene
    • Hudson LD. Pelizaeus-Merzbacher disease and spastic paraplegia type 2: two faces of myelin loss from mutations in the same gene. J Child Neurol 2003: 18: 616-624.
    • (2003) J. Child Neurol. , vol.18 , pp. 616-624
    • Hudson, L.D.1
  • 2
    • 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
  • 3
    • 0033911092 scopus 로고    scopus 로고
    • Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome
    • Hodes ME, Woodward K, Spinner NB et al. Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosome. Am J Hum Genet 2000: 67: 14-22.
    • (2000) Am. J. Hum. Genet. , vol.67 , pp. 14-22
    • Hodes, M.E.1    Woodward, K.2    Spinner, N.B.3
  • 4
    • 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: 59: 32-39.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 32-39
    • Inoue, K.1    Osaka, H.2    Sugiyama, N.3
  • 5
    • 0031801082 scopus 로고    scopus 로고
    • Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
    • Sistermans EA, de Coo RF, De Wijs IJ et al. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease. Neuro 1998: 50: 1749-1754.
    • (1998) Neuro. , vol.50 , pp. 1749-1754
    • Sistermans, E.A.1    de Coo, R.F.2    De Wijs, I.J.3
  • 6
    • 20144388747 scopus 로고    scopus 로고
    • Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease
    • Wolf NI, Sistermans EA, Cundall M et al. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain 2005: 128: 743-751.
    • (2005) Brain , vol.128 , pp. 743-751
    • Wolf, N.I.1    Sistermans, E.A.2    Cundall, M.3
  • 7
    • 27544443679 scopus 로고    scopus 로고
    • Interphase FISH analysis of the PLP gene in Pelizaeus-Merzbacher disease
    • Vance GH, Henegariu O, Thurston VC et al. Interphase FISH analysis of the PLP gene in Pelizaeus-Merzbacher disease. Am J Hum Genet 1999: 65: A361.
    • (1999) Am. J. Hum. Genet. , vol.65
    • Vance, G.H.1    Henegariu, O.2    Thurston, V.C.3
  • 8
    • 0030681255 scopus 로고    scopus 로고
    • Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
    • Wang PJ, Hwu WL, Lee WT et al. Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease. Pediatr Neurol 1997: 17: 125-128.
    • (1997) Pediatr. Neurol. , vol.17 , pp. 125-128
    • Wang, P.J.1    Hwu, W.L.2    Lee, W.T.3
  • 9
    • 0034531151 scopus 로고    scopus 로고
    • Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies
    • Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A new method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000: 107: 494-498.
    • (2000) Hum. Genet. , vol.107 , pp. 494-498
    • Aarskog, N.K.1    Vedeler, C.A.2
  • 10
    • 0033753540 scopus 로고    scopus 로고
    • Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR
    • Wilke K, Duman B, Horst J. Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat 2000: 16: 431-436.
    • (2000) Hum. Mutat. , vol.16 , pp. 431-436
    • Wilke, K.1    Duman, B.2    Horst, J.3
  • 11
    • 20044380378 scopus 로고    scopus 로고
    • Diagnosis of Pelizaeus-Merzbacher disease: Detection of proteolipid protein gene copy number by real-time PCR
    • Regis S, Grossi S, Lualdi S et al. Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR. Neurogenetics 2005: 6: 73-78.
    • (2005) Neurogenetics , vol.6 , pp. 73-78
    • Regis, S.1    Grossi, S.2    Lualdi, S.3
  • 12
    • 17044433267 scopus 로고    scopus 로고
    • Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease
    • Hubner CA, Orth U, Senning A et al. Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease. Hum Mutat 2005: 25: 321-322.
    • (2005) Hum. Mutat. , vol.25 , pp. 321-322
    • Hubner, C.A.1    Orth, U.2    Senning, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.