Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome

Nature Genetics

Volumn 21, Issue 1, 1999, Pages 142-144

  Munroe, Patricia B ^a   Olgunturk, Rana O ^b   Fryns, Jean Pierre ^c   Van Maldergem, Lionel ^d   Ziereisen, France ^e   Yuksel, Bulend ^f   Gardiner, R Mark ^a   Chung, Eddie ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b GAZI UNIVERSITY   (Turkey)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^e HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^f ROYAL FREE LONDON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIFICATION; CHROMOSOME 12P; EXTRACELLULAR MATRIX; GENE LOCUS; HUMAN; KEUTEL SYNDROME; MIDFACE HYPOPLASIA; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS;

ABNORMALITIES, MULTIPLE; CALCIUM-BINDING PROTEINS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; SYNDROME;

EID: 0032902338     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/5102     Document Type: Article

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