ACMG standards and guidelines for fragile X testing: A revision to the disease-specific supplements to the standards and guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Genetics in Medicine

Volumn 15, Issue 7, 2013, Pages 575-586

  Monaghan, Kristin G ^a   Lyon, Elaine ^b   Spector, Elaine B ^c  

^a HENRY FORD HEALTH SYSTEM   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c Children's Hospital Colorado   (United States)

Author keywords

FMR1; fragile X syndrome; Southern blot analysis; triplet repeat primed PCR

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ARTICLE; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CLINICAL GENETICS; FRAGILE X SYNDROME; GENE MUTATION; GENE PRODUCT; GENETIC SCREENING; GENOMICS; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INHERITANCE; MOSAICISM; NOMENCLATURE; POLYMERASE CHAIN REACTION; PRACTICE GUIDELINE; PROTEIN ANALYSIS; SOUTHERN BLOTTING; STANDARD;

EID: 84880526251     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.61     Document Type: Article

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