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Volumn 22, Issue 3, 1999, Pages 322-326

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; BULGARIA; CHROMOSOME 5Q; CONFERENCE PAPER; EXON; FAMILY; FEMALE; GENETIC ANALYSIS; HUMAN; HYBRID GENE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; ONSET AGE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; SPINAL MUSCULAR ATROPHY;

EID: 0033040748     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005512306358     Document Type: Conference Paper
Times cited : (3)

References (10)
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    • (1990) Nature , vol.344 , pp. 540-541
    • Brzustowitz, L.M.1    Lehner, T.2    Castilla, L.H.3
  • 2
    • 0031059705 scopus 로고    scopus 로고
    • Deletion and conversion in spinal muscular atrophy patients: Is there a relationship to severity?
    • DiDonato CJ, Ingraham SE, Mendell JR, et al (1997) Deletion and conversion in spinal muscular atrophy patients: is there a relationship to severity? Ann Neurol 41: 230-237.
    • (1997) Ann Neurol , vol.41 , pp. 230-237
    • DiDonato, C.J.1    Ingraham, S.E.2    Mendell, J.R.3
  • 3
    • 0025330316 scopus 로고
    • Genetic homogeneity between acute and chronic forms of SMA
    • Gilliam TC, Brzustowicz LM, Castilla LH, et al (1990) Genetic homogeneity between acute and chronic forms of SMA. Nature 345: 823-825.
    • (1990) Nature , vol.345 , pp. 823-825
    • Gilliam, T.C.1    Brzustowicz, L.M.2    Castilla, L.H.3
  • 4
    • 0029858451 scopus 로고    scopus 로고
    • Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
    • Hahnen E, Schonling J, Rudnik-Schoneborn S, Zerres K, Wirth B (1996) Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: new insights into molecular mechanisms responsible for the disease. Am J Hum Genet 59: 1057-1065.
    • (1996) Am J Hum Genet , vol.59 , pp. 1057-1065
    • Hahnen, E.1    Schonling, J.2    Rudnik-Schoneborn, S.3    Zerres, K.4    Wirth, B.5
  • 6
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebrve S, Burglen L, Reboullet S, et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebrve, S.1    Burglen, L.2    Reboullet, S.3
  • 7
    • 0025319713 scopus 로고
    • Gene for proximal spinal muscular atrophies maps to chromosome 5q
    • Melki J, Abdelha KS, Sheth P, et al (1990) Gene for proximal spinal muscular atrophies maps to chromosome 5q. Nature 344: 767-768.
    • (1990) Nature , vol.344 , pp. 767-768
    • Melki, J.1    Abdelha, K.S.2    Sheth, P.3
  • 8
    • 0028200804 scopus 로고
    • De novo and inherited deletions of the 5q13 region in spinal muscular atrophies
    • Melki J, Lefebvre S, Burglen L, et al (1994) De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science 264: 1474-1477.
    • (1994) Science , vol.264 , pp. 1474-1477
    • Melki, J.1    Lefebvre, S.2    Burglen, L.3
  • 9
    • 0027057672 scopus 로고
    • Meeting report. International SMA Consortium meeting
    • Munsat T, Davies KE (1992) Meeting report. International SMA Consortium meeting. Neuromusc Disord 2: 423-428.
    • (1992) Neuromusc Disord , vol.2 , pp. 423-428
    • Munsat, T.1    Davies, K.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.