A new mutation in COL1A1 gene in a family with osteogenesis imperfecta

National Medical Journal of China

Volumn 86, Issue 3, 2006, Pages 170-173

  Wang, Zhuo ^a   Xu, Dong Liang ^b   Chen, Zheng ^b   Hu, Jun Yong ^b   Yang, Zheng ^b   Wang, Lian Tang ^b  

^a SUN YAT SEN UNIVERSITY   (China)

^b NONE

Author keywords

Genetics; Mutation; Osteogenesis imperfecta

Indexed keywords

ASPARTIC ACID; COLLAGEN TYPE 1; COLLAGEN TYPE 1 ALPHA 1 PROTEIN; COLLAGEN TYPE 1 ALPHA 2 PROTEIN; DNA; GLYCINE; PRIMER DNA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BONE FRAGILITY; BONE MASS; CHINA; CHROMOSOME 17Q; CODON; CONNECTIVE TISSUE DISEASE; CONTROLLED STUDY; DNA ISOLATION; DNA PURIFICATION; EXON; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENOME ANALYSIS; HETEROZYGOSITY; HUMAN; MALE; NUCLEIC ACID BASE SUBSTITUTION; OSTEOGENESIS IMPERFECTA; POLYMERASE CHAIN REACTION; PREDICTION; RESTRICTION MAPPING; SCHOOL CHILD; SEQUENCE ANALYSIS;

BASE SEQUENCE; CHILD; COLLAGEN; COLLAGEN TYPE I; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE;

EID: 32044433279     PISSN: 03762491     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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