The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: Six novel mutations of the CLCN7 gene in twelve osteopetrosis families

Journal of Bone and Mineral Metabolism

Volumn 30, Issue 3, 2012, Pages 338-348

  Wang, Chun ^a   Zhang, Hao ^a   He, Jin Wei ^a   Gu, Jie Mei ^a   Hu, Wei Wei ^a   Hu, Yun Qiu ^a   Li, Miao ^a   Liu, Yu Juan ^a   Fu, Wen Zhen ^a   Yue, Hua ^a   Ke, Yao Hua ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

Author keywords

CLCN7; Mutation; Osteopetrosis; Phenotype

Indexed keywords

CREATINE KINASE;

ADOLESCENT; ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE II; CHILD; CLCN7 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; FAMILIAL DISEASE; FEMALE; FRACTURE; GENE; GENE MUTATION; HUMAN; LRP5 GENE; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SOST GENE; TCIRG1 GENE;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BONE DENSITY; CHILD; CHILD, PRESCHOOL; CHINA; CHLORIDE CHANNELS; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; HEALTH; HETEROZYGOTE; HIP; HUMANS; LUMBAR VERTEBRAE; MALE; MUTATION; OSTEOPETROSIS; PHENOTYPE; TISSUE DONORS; VIRULENCE; YOUNG ADULT;

EID: 84863862924     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-011-0319-z     Document Type: Article

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