A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood

American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 309-312

  Maddalena, Anne ^a,b   Yadvish, Karen N ^a   Spence, W Christine ^a   Howard Peebles, Patricia N ^a,b  

^a GENETICS AND IVF INSTITUTE   (United States)

^b VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

buccal; epithelium; fragile X; full mutation; mosaic

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; CHEEK MUCOSA; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA DETERMINATION; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MOSAICISM; PHENOTYPE; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADULT; CHILD, PRESCHOOL; DNA; FEMALE; FRAGILE X SYNDROME; GENOTYPE; HUMANS; MALE; MOSAICISM; MOUTH MUCOSA; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; REFERENCE VALUES;

EID: 0029906262     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<309::AID-AJMG15>3.0.CO;2-J     Document Type: Article

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