TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

MOTEKI Hideaki; NISHIO Shin-ya; HASHIMOTO Shigenari; TAKUMI Yutaka; IWASAKI Satoshi; TAKEICHI Norihito; FUKUDA Satoshi; USAMI Shin-ichi

Art

J-GLOBAL ID：201202281743548341 Reference number：12A1689617

TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion

透明帯ドメイン蛋白質分泌の影響を受ける中音域聴覚障害を有する日本人におけるTECTA遺伝子変異

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Material：
Volume： 57 Issue： 9 Page： 587-592 Publication year： Sep. 2012
JST Material Number： Z0756A ISSN： 1434-5161 Document type： Article
Article type：原著論文 Country of issue： United Kingdom (GBR) Language： ENGLISH (EN)

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Diseases of ear,nose,pharynx and larynx , Molecular genetics in general , Metabolism in general , Reproductive physiology in general

Reference (11)：

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VERHOEVEN, K. V. L. L. Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat. Genet. 1998, 19, 60-62
BALCIUNIENE, J. Alpha-tectorin involvement in hearing disabilities : one gene-two phenotypes. Hum. Genet. 1999, 105, 211-216
PLANTINGA, R. F. A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation. Jaro. 2006, 7, 173-181
SAGONG, B. Two novel missense mutations in the TECTA gene in Korean families with autosomal dominant nonsyndromic hearing loss. Ann. Clin. Lab. Sci. 2010, 40, 380-385

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