Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule

Journal of Medical Genetics

Volumn 39, Issue 9, 2002, Pages 661-665

  Richards, A J ^a   Morgan, J ^b   Bearcroft, P W P ^c   Pickering, E ^d   Owen, M J ^e   Holmans, P ^f   Williams, N ^e   Tysoe, C ^b   Pope, F M ^g   Snead, M P ^c   Hughes, H ^b,d  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^d GLAN CLWYD HOSPITAL   (United Kingdom)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f MRC BIOSTATISTICS UNIT   (United Kingdom)

^g WEST MIDDLESEX UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 2; PROTEIN PRECURSOR;

ADULT; AMINO ACID SUBSTITUTION; ARTHROPATHY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BRACHYDACTYLY; CLINICAL ARTICLE; COLLAGEN DISEASE; CONTROLLED STUDY; DYSPLASIA; EXON; FIBER; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC LINKAGE; HUMAN; KNIEST DYSPLASIA; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHALANX; PHENOTYPE; PRIORITY JOURNAL; RETINA DETACHMENT; SPONDYLOEPIPHYSEAL DYSPLASIA; STRICKLER DYSPLASIA; STRUDWICK DYSPLASIA; VITREORETINOPATHY;

EID: 18544362958     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.9.661     Document Type: Article

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