Mutation c.359_363delGTATTinsATAC in the COL4A5 Causes alport syndrome in a Chinese family

Gene

Volumn 512, Issue 2, 2013, Pages 482-485

  Wang, Qiufen ^a   Liu, Fei ^a   Xing, Yue ^a   Wei, Xianjin ^b   Li, Hui ^a   Zhang, Shirong ^a   Liu, Jingyu ^a   Wang, Qing ^a   Tang, Zhaohui ^a   Liu, Mugen ^a  

^a HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

^b Pinghu Traditional Chinese Medicine Hospital   (China)

Author keywords

Frameshift mutation; Linkage; Phenotype; Renal disease; Type IV collagen

Indexed keywords

BIOLOGICAL MARKER; COL4A5 PROTEIN; COLLAGEN TYPE 4; MUTANT PROTEIN; TYPE IV COLLAGEN CHAIN ALPHA 5; UNCLASSIFIED DRUG;

ADULT; ALPORT SYNDROME; ARTICLE; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; KIDNEY DISEASE; LINKAGE ANALYSIS; MALE; PRIORITY JOURNAL;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHINA; COLLAGEN TYPE IV; FAMILY; FEMALE; FRAMESHIFT MUTATION; HUMANS; MALE; MIDDLE AGED; MUTAGENESIS, INSERTIONAL; NEPHRITIS, HEREDITARY; PEDIGREE; SEQUENCE DELETION;

EID: 84870367506     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.10.014     Document Type: Article

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