Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory

Genetics in Medicine

Volumn 9, Issue 1, 2007, Pages 46-51

  Strom, Charles M ^a   Crossley, Beryl ^a   Redman, Joy B ^a   Buller, Arlene ^a   Quan, Franklin ^a   Peng, Mei ^a   McGinnis, Matthew ^a   Fenwick Jr , Raymond G ^a   Sun, Weimin ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

Fragile X syndrome; Martin Bell Syndrome; Triplet Repeat Expansion FMR1; X linked dominant disease

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ADULT; ALLELE; ARTICLE; CHILD; CLINICAL LABORATORY; CONTROLLED STUDY; DATA BASE; DISEASE CARRIER; FEMALE; FETUS; FRAGILE X SYNDROME; GENETIC COUNSELING; HUMAN; MAJOR CLINICAL STUDY; MALE; PERINATAL PERIOD; PRENATAL DIAGNOSIS;

ADULT; CHILD; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE FREQUENCY; GENETIC COUNSELING; GENETIC SCREENING; HETEROZYGOTE; HUMANS; LABORATORIES; MALE; PRENATAL DIAGNOSIS; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 33846199099     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31802d833c     Document Type: Article

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