A t(4;6)(q12;p23) translocation disrupts a membrane-associated O-acetyl transferase gene (MBOAT1) in a patient with a novel brachydactyly-syndactyly syndrome

European Journal of Human Genetics

Volumn 15, Issue 7, 2007, Pages 743-751

  Dauwerse, Johannes G ^a   de Vries, Bert B A ^b   Wouters, Cokkie H ^c   Bakker, Egbert ^a   Rappold, Gudrun ^d   Mortier, Geert R ^e   Breuning, Martijn H ^a   Peters, Dorien J M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Clinical Genetics Center Rotterdam   (Netherlands)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; AMINO ACID; FATTY ACID; MEMBRANE ASSOCIATED O ACETYLTRANSFERASE PROTEIN; MEMBRANE PROTEIN; PROTEIN MBOAT1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE RADIOGRAPHY; BRACHYDACTYLY; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME 6; CHROMOSOME TRANSLOCATION 4; CLINICAL FEATURE; EXON; GENE DISRUPTION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC CODE; HUMAN; HUMAN CELL; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATIENT ASSESSMENT; PREDICTION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CONTENT; PROTEIN DETERMINATION; PROTEIN FAMILY; PROTEIN STRUCTURE; SIGNAL TRANSDUCTION; SYNDACTYLY;

ACETYLTRANSFERASES; ADULT; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; FINGERS; HAND DEFORMITIES, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; SYNDACTYLY; TRANSLOCATION, GENETIC;

EID: 34250767655     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201833     Document Type: Article

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