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Broad Clinical Involvement in a Family Affected by the Fragile X Premutation

The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders (FXD) including fragile X syndrome (FXS), fragile X-associated tremor/ ataxia syndrome (FXTAS), primary ovarian insufficiency and other problems associated with the premutation, such as...

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Bibliografske podrobnosti
Main Authors: CHONCHAIYA, WEERASAK, UTARI, AGUSTINI, PEREIRA, GABRIELA MARQUES, TASSONE, FLORA, HESSL, DAVID, HAGERMAN, RANDI J.
Format: Artigo
Jezik:Inglês
Izdano: 2009
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2822648/
https://ncbi.nlm.nih.gov/pubmed/19996900
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/DBP.0b013e3181c35f25
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