Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

Nature Genetics

Volumn 10, Issue 4, 1995, Pages 483-485

  Lugenbeel, Kellie A ^a   Peier, Andrea M ^a   Carson, Nancy L ^b   Chudley, Albert E ^b   Nelson, David L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MANITOBA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BASE MISPAIRING; CASE REPORT; DNA DETERMINATION; FRAGILE X SYNDROME; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; MALE; METHYLATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; TRANSCRIPTION REGULATION;

AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CELL LINE, TRANSFORMED; DNA; FRAGILE X SYNDROME; HUMAN; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; POINT MUTATION; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0029123145     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0895-483     Document Type: Article

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