Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I

Chinese Journal of Medical Genetics

Volumn 26, Issue 1, 2009, Pages 50-53

  Ke, Long Feng ^a   Zheng, Lin Wen ^a   Xie, Hai Hua ^a   Yan, Ai Zhen ^a   Zhu, Zhong Yong ^a   Lan, Feng Hua ^a  

^a FUZHOU GENERAL HOSPITAL   (China)

Author keywords

COL1A1 gene; Gene mutation; Molecular diagnosis; Osteogenesis imperfecta

Indexed keywords

ASPARTIC ACID; GENOMIC DNA; HISTIDINE;

ARTICLE; BLOOD CELL; CHINESE; CODON; COL1A1 GENE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EXON; FAMILY; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MISSENSE MUTATION; MOTHER; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE 1; PEDIGREE; POLYMERASE CHAIN REACTION; PROMOTER REGION;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; COLLAGEN TYPE I; FEMALE; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 60549094428     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2009.01.011     Document Type: Article

References (6)

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