A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

American Journal of Human Genetics

Volumn 86, Issue 5, 2010, Pages 797-804

  Sirmaci, Asli ^a   Erbek, Seyra ^b   Price, Justin ^a   Huang, Mingqian ^c   Duman, Duygu ^d   Cengiz, F Başak ^d   Bademci, Güney ^a   Tokgöz Yilmaz, Suna ^d   Hişmi, Burcu ^d   Özdaǧ, Hilal ^d   Öztürk, Banu ^e   Kulaksizoǧlu, Sevsen ^b   Yildirim, Erkan ^b   Kokotas, Haris ^f   Grigoriadou, Maria ^f   Petersen, Michael B ^f   Shahin, Hashem ^g   Kanaan, Moien ^g   King, Mary Claire ^h   Chen, Zheng Yi ^c   Blanton, Susan H ^a   Liu, Xue Z ^a   Zuchner, Stephan ^a   Akar, Nejat ^d   Tekin, Mustafa ^a   more..

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b BASKENT UNIVERSITY   (Turkey)

^c MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

^d ANKARA UNIVERSITY   (Turkey)

^e SELCUK UNIVERSITY   (Turkey)

^f AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^g BETHLEHEM UNIVERSITY   (Palestine)

^h UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MESSENGER RNA; PROTEIN SERPINB6; PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 6P; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FAMILY; FEMALE; GENE EXPRESSION; GENE MAPPING; GENETIC ASSOCIATION; HAIR CELL; HOMOZYGOTE; HUMAN; INNER EAR; LEUKOCYTE; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

CODON, NONSENSE; CONSANGUINITY; FAMILY; HEARING LOSS; HEARING LOSS, SENSORINEURAL; HEREDITY; HOMOZYGOTE; HUMANS; MUTATION; SERPINS;

EID: 77951975440     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.04.004     Document Type: Article

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