Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II)

Journal of Bone and Mineral Metabolism

Volumn 27, Issue 4, 2009, Pages 444-451

  Zhang, Zhen Lin ^a   He, Jin Wei ^a   Zhang, Hao ^a   Hu, Wei Wei ^a   Fu, Wen Zhen ^a   Gu, Jie Mei ^a   Yu, Jin Bo ^a   Gao, Gao ^a   Hu, Yun Qiu ^a   Li, Miao ^a   Liu, Yu Juan ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

Author keywords

Autosomal dominant osteopetrosis type II; CLCN7; Mutation

Indexed keywords

ALKALINE PHOSPHATASE; ARGININE; CALCIUM; CHLORIDE CHANNEL; CHLORIDE CHANNEL 7; CREATININE; GLUTAMINE; PARATHYROID HORMONE; PHOSPHATE; TRYPTOPHAN; UNCLASSIFIED DRUG; UREA;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE BLOOD LEVEL; AMINO ACID SUBSTITUTION; ANEMIA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; BACKACHE; BIRTH WEIGHT; BLOOD ANALYSIS; BODY HEIGHT; BONE DENSITY; CALCIUM BLOOD LEVEL; CASE REPORT; CHINESE; CODON; CONTROLLED STUDY; CREATININE BLOOD LEVEL; EXON; FATIGUE; FEMALE; FEMUR NECK; FRAMESHIFT MUTATION; GENE INSERTION; GENE MUTATION; GENE SEQUENCE; GENETIC IDENTIFICATION; HETEROZYGOSITY; HETEROZYGOTE; HIP; HUMAN; INFECTION; INTRON; LOSS OF FUNCTION MUTATION; LUMBAR SPINE; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOPOROSIS; PARATHYROID HORMONE BLOOD LEVEL; PEDIGREE ANALYSIS; PELVIS; PHOSPHATE BLOOD LEVEL; PRIORITY JOURNAL; SKELETON RADIOGRAPHY; SKULL; SPLENOMEGALY; ULTRASOUND; UREA BLOOD LEVEL;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHINA; CHLORIDE CHANNELS; CPG ISLANDS; DNA METHYLATION; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, INBORN; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; OSTEOPETROSIS; PEDIGREE; POINT MUTATION;

EID: 67749111396     PISSN: 09148779     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00774-009-0051-0     Document Type: Article

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