Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene

American Journal of Medical Genetics

Volumn 84, Issue 3, 1999, Pages 229-232

  Petek, Erwin ^a   Kroisel, Peter M ^a   Schuster, Margit ^a   Zierler, Hannelore ^a   Wagner, Klaus ^a  

^a UNIVERSITY OF GRAZ   (Austria)

Author keywords

Deletion; FMR1 gene; Fragile X syndrome; Mosaicism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME MOSAICISM; CPG ISLAND; FRAGILE X SYNDROME; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HUMAN; MALE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TRINUCLEOTIDE REPEAT;

ADULT; BASE SEQUENCE; BLOTTING, SOUTHERN; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE DELETION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS;

EID: 0033612247     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990528)84:3<229::AID-AJMG13>3.0.CO;2-T     Document Type: Article

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