[HTML][HTML] ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics�…
KG Monaghan, E Lyon, EB Spector�- Genetics in Medicine, 2013 - Elsevier
Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories.
Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia
syndrome, and premature ovarian insufficiency. This document provides updated
information regarding FMR1 gene mutations, including prevalence, genotype–phenotype
correlation, and mutation nomenclature. Methodological considerations are provided for
Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene�…
Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia
syndrome, and premature ovarian insufficiency. This document provides updated
information regarding FMR1 gene mutations, including prevalence, genotype–phenotype
correlation, and mutation nomenclature. Methodological considerations are provided for
Southern blot analysis and polymerase chain reaction amplification of the FMR1 gene�…