A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family

Clinica Chimica Acta

Volumn 412, Issue 11-12, 2011, Pages 1012-1017

  Cheng, Feng ^a   Ke, Xin ^b   Lv, Ming ^c   Zhang, Fan ^d   Li, Chaohua ^a   Zhang, Xianglong ^a   Zhang, Yinan ^a   Zhao, Xiangjun ^e   Wang, Xingwu ^d   Liu, Bo ^a   Han, Jinxiang ^f   Li, Yan ^d   Zeng, Changqing ^a   Li, Sheng ^d  

^a Chinese Academy of Sciences   (China)

^b Hospital of Weihai Economic Development Zone   (China)

^c ZIBO CENTRAL HOSPITAL   (China)

^d SHANDONG CANCER HOSPITAL AND INSTITUTE   (China)

^e Hospital of Zhongshan Torch Development Zone   (China)

^f SHANDONG PROVINCIAL HOSPITAL AFFILIATED TO SHANDONG FIRST MEDICAL UNIVERSITY   (China)

Author keywords

Chip array; Digit abnormality; GLI3; Polydactyly; SNP; Syndactyly

Indexed keywords

TRANSCRIPTION FACTOR GLI3;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHINESE; CHROMOSOME 7; CLINICAL ARTICLE; FEMALE; FINGER MALFORMATION; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION; GENOME ANALYSIS; HUMAN; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; FINGERS; FRAMESHIFT MUTATION; GENETIC LINKAGE; HUMANS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; SEQUENCE DELETION; TOES;

EID: 79955003000     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2011.02.007     Document Type: Article

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