Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches

Journal of Human Genetics

Volumn 59, Issue 11, 2014, Pages 599-607

  Lu, Yu ^a   Zhou, Xueya ^b,c   Jin, Zhanguo ^d   Cheng, Jing ^a   Shen, Weidong ^a   Ji, Fei ^a   Liu, Liyang ^b   Zhang, Xuegong ^b   Zhang, Michael ^b,e   Cao, Ye ^f,g   Han, Dongyi ^a   Choy, Kwongwai ^f,g   Yuan, Huijun ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b TSINGHUA UNIVERSITY   (China)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

^d AIR FORCE GENERAL HOSPITAL   (China)

^e UNIVERSITY OF TEXAS AT DALLAS   (United States)

^f CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^g CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE; CADHERIN; GENTAMICIN; PENDRIN; PROTEIN; PROTEIN CDH23; RNA 12S; STREPTOMYCIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; CDH23 PROTEIN, HUMAN; RIBOSOME RNA; RNA, RIBOSOMAL, 12S; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BINDING SITE; CALCIUM BINDING; CHINESE; CLINICAL ARTICLE; DNA BASE COMPOSITION; DNA SEQUENCE; DRUG EXPOSURE; EXOME; FAMILY; FEMALE; GENE FREQUENCY; GENE LIBRARY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INHERITANCE; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NEXT GENERATION SEQUENCING; PEDIGREE; PERCEPTION DEAFNESS; YOUNG ADULT; COMPARATIVE STUDY; FAMILY HEALTH; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; REPRODUCIBILITY;

ADOLESCENT; ADULT; CADHERINS; FAMILY HEALTH; FEMALE; GENETIC HETEROGENEITY; GENETIC PREDISPOSITION TO DISEASE; HEARING LOSS, SENSORINEURAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; REPRODUCIBILITY OF RESULTS; RNA, RIBOSOMAL; YOUNG ADULT;

EID: 84927130784     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.78     Document Type: Article

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