A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome-Reference-Cited by-同舟云学术

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

Published:1994 Issue:4 Volume:3 Page:615-620
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Hum Mol Genet

Author:

Meljer Henk,de Graaff Esther,Merckx Diane M.L.,Jongbloed Roselle J.E.,de Die-Smulders Christine E.M.,Engelen John J.M.,Fryns Jean-Pierre,Curfs Paul M.G.,Oostra Ben A.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/3/4/615/2641748/3-4-615.pdf

Cited by 76 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. Clinical and molecular characteristics of FMR1 microdeletion in patient with fragile X syndrome and review of the literature;Clinica Chimica Acta;2024-01

2. Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions;Emerging Topics in Life Sciences;2023-09-28

3. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes;Genes;2021-10-22

4. Reevaluation of FMR1 Hypermethylation Timing in Fragile X Syndrome;Frontiers in Molecular Neuroscience;2018-02-06

5. Recent advances in assays for the fragile X-related disorders;Human Genetics;2017-09-02

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