Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles

BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome. FMR1 CGG repeat alleles are categorized accordingto number as normal, intermediate, premutation, and full mutation alleles. Con...

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Bibliographic Details
Main Authors: Mahmoud Shekari Khaniani, Sima Mansoori Derakhshan
Format: Article
Language:English
Published: Tabriz University of Medical Sciences 2013-08-01
Series:Journal of Analytical Research in Clinical Medicine
Subjects:
FXS
POF
Online Access:http://journals.tbzmed.ac.ir/JARCM/Manuscript/JARCM-1-2.pdf