A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression

Human Genetics

Volumn 120, Issue 2, 2006, Pages 238-242

  Jiang, Miao ^a   Zhao, Xiuli ^b   Han, Weitian ^a   Bian, Chaoying ^a   Li, Xuefu ^a   Wang, Ge ^a   Ao, Yang ^b   Li, Yunqing ^a   Yi, Dongxu ^a   Zhe, Yang ^c   Lo, Wilson H Y ^b   Zhang, Xue ^b   Li, Jianxin ^a  

^a Key Laboratory of Reproductive Health of Liaoning Province   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

^c BEIJING HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; GENE PRODUCT; PROTEIN TNNI2; UNCLASSIFIED DRUG;

ADULT; ARTHROGRYPOSIS; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; MALE; MICROSATELLITE MARKER; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCORING SYSTEM;

ARTHROGRYPOSIS; ASIAN CONTINENTAL ANCESTRY GROUP; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENETIC LINKAGE; HUMANS; LINKAGE (GENETICS); PEDIGREE; TROPOMYOSIN; TROPONIN I; TROPONIN T;

EID: 33746941317     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0183-4     Document Type: Article

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