A novel mutation leading to elongation of the deduced α1(X) chain results in Metaphyseal Chondrodysplasia type Schmid

Clinica Chimica Acta

Volumn 412, Issue 13-14, 2011, Pages 1266-1269

  Zhu, Yimin ^a   Li, Liping ^a   Zhou, Lijun ^a   Mei, Haibo ^a   Jin, Ke ^a   Liu, Kun ^a   Xu, Wei ^b   Tang, Jinsong ^c   Yang, Yongjia ^a   Zhao, Rui ^a   He, Xinyu ^a  

^a UNIVERSITY OF SOUTH CHINA   (China)

^b The First Hospital of Hunan Province   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

COL10A1; Collagen X; Elongation; MCDS

Indexed keywords

COLLAGEN ALPHA1(X)CHAIN; COLLAGEN TYPE 10; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CHILD; CHINESE; CHONDRODYSPLASIA; CLINICAL ARTICLE; COL10A1 GENE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY STUDY; FRAMESHIFT MUTATION; GENE; HUMAN; KNEE PAIN; METAPHYSEAL CHONDRODYSPLASIA TYPE SCHMID; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA TRANSLATION; SCREENING; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; COLLAGEN TYPE X; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; YOUNG ADULT;

EID: 79955399632     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2011.03.026     Document Type: Article

References (24)

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