The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells

American Journal of Medical Genetics

Volumn 64, Issue 2, 1996, Pages 302-308

  De Graaff, Esther ^a   De Vries, Bert B A ^a   Willemsen, Rob ^a   Van Hemel, Jan O ^a   Mohkamsing, Serieta ^a   Oostra, Ben A ^a   Van Den Ouweland, Ans M W ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

FMRP expression; fragile X syndrome; mosaic male patient

Indexed keywords

GENE PRODUCT;

AGED; ARTICLE; CASE REPORT; CODON; COGNITION; FRAGILE X SYNDROME; GENE DELETION; GENE EXPRESSION; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MOSAICISM; PHENOTYPE; PRIORITY JOURNAL;

AGED; BASE SEQUENCE; CELLS, CULTURED; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; LYMPHOCYTES; MALE; MOLECULAR SEQUENCE DATA; MOSAICISM; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; REGULATORY SEQUENCES, NUCLEIC ACID; RNA-BINDING PROTEINS; SEQUENCE DELETION; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEATS;

EID: 0029900477     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<302::AID-AJMG14>3.0.CO;2-J     Document Type: Article

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