Segregation of the fragile X mutation from a male with a full mutation: Unusual somatic instability in the FMR-1 locus

American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 404-407

  Kambouris, Marios ^a   Snow, Karen ^b,c   Thibodeau, Stephen ^b   Bluhm, Denise ^a   Green, Michael ^b   Feldman, Gerald L ^a  

^a HENRY FORD HOSPITAL   (United States)

^b MAYO CLINIC   (United States)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

Author keywords

FMR 1 locus; fragile X syndrome; somatic mosaicism

Indexed keywords

ALLELE; AMINO ACID SEQUENCE; ARTICLE; FRAGILE X SYNDROME; GENE LOCUS; GENE MUTATION; GENE SEGREGATION; HUMAN; HUMAN CELL; METHYLATION; MOSAICISM; PERIPHERAL LYMPHOCYTE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MUTATION;

ALLELES; DISEASES IN TWINS; DNA METHYLATION; FAMILY; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; TWINS, DIZYGOTIC;

EID: 0029955196     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<404::AID-AJMG34>3.0.CO;2-H     Document Type: Article

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