A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

Journal of Medical Genetics

Volumn 43, Issue 3, 2006, Pages 225-231

  Kjaer, Klaus W ^a,b   Eiberg, H ^b   Hansen, L ^b   Van Der Hagen, C B ^c   Rosendahl, K ^d   Tommerup, N ^b   Mundlos, S ^e  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BONE MORPHOGENETIC PROTEIN RECEPTOR; BONE MORPHOGENETIC PROTEIN RECEPTOR 2; GROWTH DIFFERENTIATION FACTOR 5; LEUCINE; PROLINE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; BINDING SITE; BRACHYDACTYLY; BRACHYDACTYLY TYPE A2; CLINICAL ARTICLE; CONTROLLED STUDY; CRYSTAL STRUCTURE; DNA FLANKING REGION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HUMAN; INDEX FINGER; LINKAGE ANALYSIS; MISSENSE MUTATION; MOLECULAR BIOLOGY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING; REVIEW;

BINDING SITES; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; BONE MORPHOGENETIC PROTEINS; CHROMOSOME MAPPING; DNA PRIMERS; FEMALE; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MUTATION; PEDIGREE;

EID: 33645118236     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.034058     Document Type: Review

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