Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

Fragile-X syndrome is caused by an unstable CGG trinucleotide repeat in the FMR1 gene at Xq27. Intermediate alleles (51–200 repeats) can undergo expansion to the full mutation on transmission from mother to offspring. To evaluate the effectiveness of a fragile-X carrier–screening program, we tested...

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Bibliografski detalji
Glavni autori: Toledano-Alhadef, Hagit, Basel-Vanagaite, Lina, Magal, Nurit, Davidov, Bella, Ehrlich, Sophie, Drasinover, Valerie, Taub, Ellen, Halpern, Gabrielle J., Ginott, Nathan, Shohat, Mordechai
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
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Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235307/
https://ncbi.nlm.nih.gov/pubmed/11443541
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