对FMR-1基因的直接分析为一个脆性X综合征阴性、智力发育迟缓男性的特殊病例提供了解释，该男性来自一个脆性X综合征家族。 - Suppr

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超能文献

Direct analysis of the FMR-1 gene provides an explanation for an exceptional case of a fragile X negative, mentally retarded male in a fragile X family.

作者信息

Tarleton J, Wong S, Schwartz C

机构信息

Molecular Genetics, Greenwood Genetic Center, SC 29646.

出版信息

J Med Genet. 1992 Dec;29(12):919-20. doi: 10.1136/jmg.29.12.919.

DOI:10.1136/jmg.29.12.919

PMID:1336058

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1016214/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f87a/1016214/a9be69d5cc2c/jmedgene00026-0081-a.jpg

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Clinical and molecular implications of mosaicism in FMR1 full mutations.FMR1 完全突变体镶嵌现象的临床和分子意义。

Front Genet. 2014 Sep 17;5:318. doi: 10.3389/fgene.2014.00318. eCollection 2014.

Molecular analysis and test of linkage between the FMR-1 gene and infantile autism in multiplex families.多成员家庭中FMR-1基因与婴儿自闭症之间的连锁分子分析及检测

Am J Hum Genet. 1994 Nov;55(5):951-9.

本文引用的文献

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.

Science. 1991 Mar 8;251(4998):1236-9. doi: 10.1126/science.2006411.

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation.通过DNA分析对脆性X智力障碍综合征进行直接诊断。

N Engl J Med. 1991 Dec 12;325(24):1673-81. doi: 10.1056/NEJM199112123252401.

Molecular heterogeneity of the fragile X syndrome.脆性X综合征的分子异质性。

Nucleic Acids Res. 1991 Aug 25;19(16):4355-9. doi: 10.1093/nar/19.16.4355.

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.脆性X综合征女性携带者血细胞中的选择：年龄与携带完全突变的活性X染色体比例之间的负相关。

J Med Genet. 1991 Dec;28(12):830-6. doi: 10.1136/jmg.28.12.830.

The fragile X syndrome.脆性X综合征

J Med Genet. 1991 Dec;28(12):809-10. doi: 10.1136/jmg.28.12.809.

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.鉴定出一个含有CGG重复序列的基因（FMR-1），该基因与脆性X综合征中表现出长度变异的断点簇区域一致。

Cell. 1991 May 31;65(5):905-14. doi: 10.1016/0092-8674(91)90397-h.

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.将脆性X染色体上的DNA不稳定性定位到一个三核苷酸重复序列p(CCG)n。

Science. 1991 Jun 21;252(5013):1711-4. doi: 10.1126/science.1675488.

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