A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion-Reference-Cited by-同舟云学术

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A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion

Published:1996-08-22 Issue:4 Volume:98 Page:419-421
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Milà M.,Castellví-Bel Sergi,Giné Ramon,Vazquez Carlos,Badenas Cèlia,Sánchez Aurora,Estivill Xavier

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390050232.pdf

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transmission of double FMR1 allelic premutations in a family;Genes & Genomics;2016-12-27

2. Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis;Clinical Chemistry;2016-02-01

3. A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male;American Journal of Medical Genetics Part A;2012-04-09

4. Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling;Journal of Human Genetics;2010-11-25

5. Unexpected finding of a paternal premutation of the fragile XFMR1gene in a female fetus of a premutation carrier mother;American Journal of Medical Genetics Part A;2010-02

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