Targeted massive parallel sequencing: The effective detection of novel causative mutations associated with hearing loss in small families

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Baek, Jeong In ^a   Oh, Se Kyung ^a   Kim, Dong Bin ^a   Choi, Soo Young ^a   Kim, Un Kyung ^a   Lee, Kyu Yup ^b   Lee, Sang Heun ^b  

^a Kyungpook National University   (South Korea)

^b Kyungpook National University School of Medicine   (South Korea)

Author keywords

Gene; Hearing loss; Heterogeneous; Mutation; Next generation sequencing

Indexed keywords

ARTICLE; AUDIOGRAPHY; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HEARING IMPAIRMENT; HEREDITARY ATAXIA; HEREDITY; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION;

BASE SEQUENCE; FEMALE; GENETIC VARIATION; HEARING LOSS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; REPUBLIC OF KOREA;

EID: 84865589542     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-60     Document Type: Article

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