Novel Compound Heterozygous TMC1 Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

PLoS ONE

Volumn 8, Issue 5, 2013, Pages

  Gao, Xue ^a,b,c   Su, Yu ^a   Guan, Li Ping ^d   Yuan, Yong Yi ^a   Huang, Sha Sha ^a   Lu, Yu ^a   Wang, Guo Jian ^a   Han, Ming Yu ^a,b   Yu, Fei ^a   Song, Yue Shuai ^a,b   Zhu, Qing Yan ^d   Wu, Jing ^e   Dai, Pu ^a,b  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b Hainan Branch of PLA General Hospital   (China)

^c Second Artillery General Hospital   (China)

^d BGI SHENZHEN   (China)

^e BGI Tianjin   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FAMILY; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; SIBLING; TMC1 GENE;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, GENETIC; RATS; SIBLINGS; YOUNG ADULT;

EID: 84877729872     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0063026     Document Type: Article

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