Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution.
作者信息
Müller B, Clerget-Darpoux F
出版信息
Am J Hum Genet. 1991 Jul;49(1):238-40.
Abstract
摘要
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Becker's model and prenatal diagnosis in proximal spinal muscular atrophy (SMA): a note of caution.贝克尔模型与近端脊髓性肌萎缩症（SMA）的产前诊断：一则警示
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Phenotypic heterogeneity and the single gene.表型异质性与单基因
Am J Hum Genet. 1992 May;50(5):887-91.
3
Prenatal prediction of spinal muscular atrophy.
J Med Genet. 1992 Mar;29(3):165-70. doi: 10.1136/jmg.29.3.165.
本文引用的文献
1
[PSEUDOMYOPATHIC SPINAL MUSCULAR ATROPHY. HEREDITARY NEUROGENIC PROXIMAL AMYOTROPHY OF KUGELBERG AND WELANDER].
Z Mensch Vererb Konstitutionsl. 1963 Dec 17;37:193-220.
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Genetic counseling in families with spinal muscular atrophy type Kugelberg-Welander.
Hum Genet. 1983;65(1):74-5. doi: 10.1007/BF00285033.
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Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
4
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3.儿童期慢性起病型脊髓性肌萎缩症的基因定位至5号染色体q11.2 - 13.3区域。
Nature. 1990 Apr 5;344(6266):540-1. doi: 10.1038/344540a0.
5
Heterogeneity in proximal spinal muscular atrophy.
Lancet. 1990 Sep 22;336(8717):749-50. doi: 10.1016/0140-6736(90)92243-b.
6
Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14. The French Spinal Muscular Atrophy Investigators.急性（I型）脊髓性肌萎缩症基因定位于5号染色体q12 - q14区域。法国脊髓性肌萎缩症研究组
Lancet. 1990 Aug 4;336(8710):271-3. doi: 10.1016/0140-6736(90)91803-i.
7
Genetic homogeneity between acute and chronic forms of spinal muscular atrophy.脊髓性肌萎缩症急性和慢性形式之间的基因同质性。
Nature. 1990 Jun 28;345(6278):823-5. doi: 10.1038/345823a0.
8
Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q.慢性近端脊髓性肌萎缩症基因定位于5号染色体长臂。
Nature. 1990 Apr 19;344(6268):767-8. doi: 10.1038/344767a0.
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