A point mutation in the FMR-1 gene associated with fragile X mental retardation

Nature Genetics

Volumn 3, Issue 1, 1993, Pages 31-35

  De Boulle, Kristel ^a   Verkerk, Annemieke J M H ^b   Reyniers, Edwin ^a   Vits, Lieve ^a   Hendrickx, Jan ^a   Van Roy, Bernadette ^a   Van Den Bos, Feikje ^c   de Graaff, Esther ^b   Oostra, Ben A ^d   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^c Institute of Mentally Retarded Het Bouwhuis ^*  (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA METHYLATION; FAMILY STUDY; FRAGILE X SYNDROME; GENE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; PHENOTYPE; POINT MUTATION; X CHROMOSOME;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, SOUTHERN; CASE REPORT; CELL LINE, TRANSFORMED; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X SYNDROME; HUMAN; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T;

EID: 0027509234     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0193-31     Document Type: Article

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