A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family

Molecular Vision

Volumn 14, Issue , 2008, Pages 2304-2308

  Yang, Zhenglin ^a,b   Yang, Yang ^b   Zhao, Peiquan ^c   Chen, Kechun ^d   Chen, Bin ^b   Lin, Ying ^b   Guo, Fuqiang ^b   Chen, Yigong ^d   Liu, Xiaoqi ^b   Lu, Fang ^b   Shi, Yi ^b   Zhang, Dingding ^b   Liao, Shihuang ^b   Xia, Qingyou ^a  

^a SOUTHWEST UNIVERSITY   (China)

^b SICHUAN PROVINCIAL PEOPLE'S HOSPITAL   (China)

^c SHANGHAI JIAO TONG UNIVERSITY   (China)

^d Linshui County Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN BBS12; PROTEIN BBS7; UNCLASSIFIED DRUG;

ARTICLE; BARDET BIEDL SYNDROME; CHINESE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DNA EXTRACTION; FAMILY STUDY; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; INHERITANCE; LINKAGE ANALYSIS; MALE; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BARDET-BIEDL SYNDROME; BASE SEQUENCE; CHINA; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEINS; RETINA;

EID: 58049128510     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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