A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia

American Journal of Medical Genetics

Volumn 63, Issue 1, 1996, Pages 123-128

  Zabel, Bernhard ^a   Hilbert, Katja ^a   Stöß, Hartmut ^b   Superti Furga, Andrea ^c   Spranger, Jürgen ^a   Winterpacht, Andreas ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b St Jonannis Stift   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

brachydactyly E; C propedtide; chondrocalcin; COL2A1 defect; skeletal dysplasia; spondyloepiphyseal spondyloperipheral dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DYSPLASIA; BRACHYDACTYLY; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLINICAL FEATURE; COLLAGEN DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE ISOLATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SHORT STATURE; SPONDYLOEPIPHYSEAL DYSPLASIA;

AMINO ACID SEQUENCE; BASE SEQUENCE; BONE AND BONES; BONE DEVELOPMENT; COLLAGEN; DNA; ENDOPLASMIC RETICULUM, ROUGH; EXONS; FEMALE; FRAMESHIFT MUTATION; GROWTH PLATE; HUMANS; ILIUM; INFANT, NEWBORN; LEUKOCYTES; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; OSTEOCHONDRODYSPLASIAS; POLYMERASE CHAIN REACTION;

EID: 0029871742     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960503)63:1<123::AID-AJMG22>3.0.CO;2-P     Document Type: Article

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