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Molecular basis of spinal muscular atrophy in Chinese.

作者信息

Chang J G, Jong Y J, Huang J M, Wang W S, Yang T Y, Chang C P, Chen Y J, Lin S P

出版信息

Am J Hum Genet. 1995 Dec;57(6):1503-5.

PMID:8533782
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1801417/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/ba108c0461f4/ajhg00038-0251-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/a8949ef4f776/ajhg00038-0250-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/c39744d08c53/ajhg00038-0251-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/ba108c0461f4/ajhg00038-0251-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/a8949ef4f776/ajhg00038-0250-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/c39744d08c53/ajhg00038-0251-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a804/1801417/ba108c0461f4/ajhg00038-0251-b.jpg

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Molecular basis of spinal muscular atrophy in Chinese.中国脊髓性肌萎缩症的分子基础。
Am J Hum Genet. 1995 Dec;57(6):1503-5.
2
Prenatal prediction of spinal muscular atrophy in Chinese.中国脊髓性肌萎缩症的产前预测。
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4
Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis.
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DNA enzyme immunoassay for improved molecular detection of deletions in spinal muscular atrophies.用于改善脊髓性肌萎缩症缺失分子检测的DNA酶免疫测定法。
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6
Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.常染色体隐性遗传性脊髓性肌萎缩症5q13染色体上候选基因的分子分析：未患病个体中SMN基因纯合缺失的证据。
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[Analysis of deletional damage in SMN1, SMN2, and NAIP genes in patients with spinal muscular atrophy in the northwestern region of Russia].[俄罗斯西北部脊髓性肌萎缩症患者中SMN1、SMN2和NAIP基因的缺失性损伤分析]
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Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.中国脊髓性肌萎缩症患者及无关健康对照中SMN1、SMN2和NAIP的分子特征及拷贝数
BMC Musculoskelet Disord. 2015 Feb 7;16(1):11. doi: 10.1186/s12891-015-0457-x.
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Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran.

本文引用的文献

1
Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.台湾重型β地中海贫血的分子基础及血液学特征，一例中国患者存在IVS-1 3'端TAG→GAG突变
Br J Haematol. 1993 Jan;83(1):112-7. doi: 10.1111/j.1365-2141.1993.tb04640.x.
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'Cold SSCP': a simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses.“冷SSCP”：一种用于优化单链构象多态性分析的简单、快速且非放射性的方法。
Nucleic Acids Res. 1993 Aug 11;21(16):3637-42. doi: 10.1093/nar/21.16.3637.
3
The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy.
伊朗脊髓性肌萎缩症患者生存运动神经元及神经元凋亡抑制蛋白基因的基因型-表型相关性
Adv Biomed Res. 2014 Jan 27;3:74. doi: 10.4103/2277-9175.125872. eCollection 2014.
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Deletion analysis of SMN and NAIP genes in Tunisian patients with spinal muscular atrophy.突尼斯脊髓性肌萎缩症患者中SMN和NAIP基因的缺失分析。
Ann Indian Acad Neurol. 2013 Jan;16(1):57-61. doi: 10.4103/0972-2327.107704.
5
Deletion analysis of SMN1 and NAIP genes in Southern Chinese children with spinal muscular atrophy.中国南方脊髓性肌萎缩症患儿中SMN1和NAIP基因的缺失分析。
J Zhejiang Univ Sci B. 2009 Jan;10(1):29-34. doi: 10.1631/jzus.B0820125.
6
Mapping of the bovine spinal muscular atrophy locus to Chromosome 24.
Mamm Genome. 2003 Jun;14(6):383-91. doi: 10.1007/s00335-002-3024-3.
7
Treatment of spinal muscular atrophy by sodium butyrate.丁酸钠治疗脊髓性肌萎缩症
Proc Natl Acad Sci U S A. 2001 Aug 14;98(17):9808-13. doi: 10.1073/pnas.171105098.
8
Spinal muscular atrophy: present state.脊髓性肌萎缩症：现状
Brain Pathol. 2001 Apr;11(2):231-47. doi: 10.1111/j.1750-3639.2001.tb00395.x.
9
Gemin3: A novel DEAD box protein that interacts with SMN, the spinal muscular atrophy gene product, and is a component of gems.Gemin3：一种新型的DEAD盒蛋白，它与脊髓性肌萎缩症基因产物SMN相互作用，并且是宝石小体的一个组成部分。
J Cell Biol. 1999 Dec 13;147(6):1181-94. doi: 10.1083/jcb.147.6.1181.
10
Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling.存活运动神经元拷贝数的定量分析：脊髓性肌萎缩症患者中微小SMN1突变的鉴定、基因型-表型相关性及对遗传咨询的意义。
Am J Hum Genet. 1999 May;64(5):1340-56. doi: 10.1086/302369.
患有脊髓性肌萎缩症的个体中，神经元凋亡抑制蛋白基因存在部分缺失。
Cell. 1995 Jan 13;80(1):167-78. doi: 10.1016/0092-8674(95)90461-1.
4
Identification and characterization of a spinal muscular atrophy-determining gene.一种脊髓性肌萎缩症决定基因的鉴定与特征分析。
Cell. 1995 Jan 13;80(1):155-65. doi: 10.1016/0092-8674(95)90460-3.
5
The gene frequency of acute Werdnig-Hoffmann disease (SMA type 1). A total population survey in North-East England.急性韦尼克-霍夫曼病（1型脊髓性肌萎缩症）的基因频率。英格兰东北部的一项总人口调查。
J Med Genet. 1973 Sep;10(3):260-5. doi: 10.1136/jmg.10.3.260.
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The genetic component in child mortality.儿童死亡率中的遗传因素。
Arch Dis Child. 1970 Feb;45(239):33-8. doi: 10.1136/adc.45.239.33.
7
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.利用聚合酶链反应快速灵敏地检测点突变和DNA多态性。
Genomics. 1989 Nov;5(4):874-9. doi: 10.1016/0888-7543(89)90129-8.
8
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.
9
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.
10
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.