A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

Clinical Dysmorphology

Volumn 15, Issue 4, 2006, Pages 197-202

  Sellick, Gabrielle S ^a   Hoornaert, Kristein P ^b   Mortier, Geert R ^b   King, Catherine ^c   Dolling, Claire L ^c   Newbury Ecob, Ruth A ^c   Gargan, Martin ^d   Hall, Christine M ^e   Houlston, Richard S ^a   Smithson, Sarah F ^c  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ST MICHAEL'S HOSPITAL   (United Kingdom)

^d BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Autosomal dominant; COL2A1; Linkage analysis; Spondyloepiphyseal dysplasia

Indexed keywords

ALANINE; COLLAGEN TYPE 11; GLYCINE;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; COL2A1 GENE; CONTROLLED STUDY; FAMILY; GENE; HUMAN; LINKAGE ANALYSIS; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RADIOLOGY; SCHOOL CHILD; SPONDYLOEPIPHYSEAL DYSPLASIA; SUBSTITUTION REACTION;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; BASE SEQUENCE; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; COLLAGEN TYPE II; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HAPLOTYPES; HUMANS; MALE; MIDDLE AGED; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 33748573937     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000220616.55402.03     Document Type: Article

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