Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Journal of Translational Medicine

Volumn 9, Issue 1, 2011, Pages

  Huang, Shasha ^a,b   Han, Dongyi ^a   Yuan, Yongyi ^a   Wang, Guojian ^a   Kang, Dongyang ^a   Zhang, Xin ^a   Yan, Xiaofei ^a   Meng, Xiaoxiao ^a   Dong, Min ^a,b   Dai, Pu ^a  

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b NANKAI UNIVERSITY   (China)

Author keywords

Enlarged vestibular aqueduct; Hearing loss; Inner ear malformation; Mondini dysplasia; SLC26A4

Indexed keywords

CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARTICLE; ASIAN; CHEMISTRY; CHILD; CHINA; CONGENITAL MALFORMATION; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEARING; HUMAN; INFANT; MALE; MOLECULAR GENETICS; MUTATION; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; RADIOGRAPHY; SEQUENCE ALIGNMENT; VESTIBULE AQUEDUCT;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; CHINA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEARING; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE ALIGNMENT; VESTIBULAR AQUEDUCT; YOUNG ADULT;

EID: 80053374148     PISSN: None     EISSN: 14795876     Source Type: Journal    
DOI: 10.1186/1479-5876-9-167     Document Type: Article

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