Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.

Human mutation

Volumn 23, Issue 4, 2004, Pages 396-

  Bateman, John F ^a   Freddi, Susanna ^a   McNeil, Robyn ^a   Thompson, Elizabeth ^a   Hermanns, Pia ^a   Savarirayan, Ravi ^a   Lamandé, Shireen R ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 10;

ARTICLE; CHEMISTRY; CHONDRODYSPLASIA; GENETIC POLYMORPHISM; GENETICS; HUMAN; METABOLISM; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PROTEIN TERTIARY STRUCTURE;

COLLAGEN TYPE X; DNA MUTATIONAL ANALYSIS; HUMANS; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY;

MLCS; MLOWN;

EID: 2342576367     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9222     Document Type: Article

References (0)