Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: A large cohort study

Journal of Human Genetics

Volumn 59, Issue 5, 2014, Pages 262-268

  Miyagawa, Maiko ^a   Nishio, Shin Ya ^a   Usami, Shin Ichi ^a   Takeichi, Norihito ^b   Fukuda, Satoshi ^b   Namba, Atsushi ^c   Shinkawa, Hideichi ^c   Kobayashi, Yumiko ^d   Sato, Hiroaki ^d   Kawase, Tetsuaki ^e   Kobayashi, Toshimitsu ^e   Watanabe, Tomoo ^f   Ito, Tsukasa ^f   Aoyagi, Masaru ^f   Ogawa, Hiroshi ^g   Omori, Koichi ^g   Ishikawa, Kotaro ^h   Ichimura, Keiichi ^h   Nagai, Kyoko ⁱ   Furuya, Nobuhiko ⁱ   Shigihara, Shuntaro ^j   Nomura, Yasuyuki ^j   Ikeda, Minoru ^j   Ikezono, Tetsuo ^k   Yagi, Toshiaki ^k   Tomiyama, Shunichi ^l   Kojima, Hiromi ^m   Sakurai, Yuika ^m   Moriyama, Hiroshi ^m   Kumakawa, Kozo ⁿ   Sano, Hajime ^o   Okamoto, Makito ^o   Iwasaki, Satoshi ^p   Takeuchi, Kazuhiko ^q   Nakai, Masako ^r   Higashikawa, Masahiko ^s   Takenaka, Hiroshi ^s   Saito, Yuko ^t   Sakagami, Masafumi ^t   Naito, Yasushi ^u   Fujihara, Keiji ^v   Sakai, Akihiro ^v   Yamanaka, Noboru ^v   Fukushima, Kunihiro ^w   Nishizaki, Kazunori ^w   Sugahara, Kazuma ^x   Yamashita, Hiroshi ^x   Hato, Naoto ^y   Gyo, Kiyofumi ^y   Kakazu, Yasuhiro ^z   Komune, Shizuo ^z   Sugamura, Mayumi ^aa   Nakagawa, Takashi ^aa   Takahashi, Haruo ^ab   Kanda, Yukihiko ^ac   Kawano, Hirokazu ^ad   Tono, Tetsuya ^ad   Miyanohara, Ikuyo ^ae   Kurono, Yuichi ^ae   Ganaha, Akira ^af   Suzuki, Mikio ^af   more..

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b HOKKAIDO UNIVERSITY   (Japan)

^c HIROSAKI UNIVERSITY   (Japan)

^d IWATE MEDICAL UNIVERSITY   (Japan)

^e TOHOKU UNIVERSITY   (Japan)

^f YAMAGATA UNIVERSITY   (Japan)

^g FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^h JICHI MEDICAL UNIVERSITY   (Japan)

ⁱ GUNMA UNIVERSITY   (Japan)

^j NIHON UNIVERSITY   (Japan)

^k NIPPON MEDICAL SCHOOL   (Japan)

^l NIPPON MEDICAL SCHOOL TAMA NAGAYAMA HOSPITAL   (Japan)

^m JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

ⁿ TORANOMON HOSPITAL   (Japan)

^o KITASATO UNIVERSITY   (Japan)

^p HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^q MIE UNIVERSITY   (Japan)

^r Shiga Medical Center for Children   (Japan)

^s OSAKA MEDICAL COLLEGE   (Japan)

^t HYOGO COLLEGE OF MEDICINE   (Japan)

^u KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^v WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^w OKAYAMA UNIVERSITY   (Japan)

^x YAMAGUCHI UNIVERSITY   (Japan)

^y EHIME UNIVERSITY   (Japan)

^z KYUSHU UNIVERSITY   (Japan)

^aa FUKUOKA UNIVERSITY   (Japan)

^ab NAGASAKI UNIVERSITY   (Japan)

^ac Kanda ENT Clinic   (Japan)

^ad UNIVERSITY OF MIYAZAKI   (Japan)

^ae KAGOSHIMA UNIVERSITY   (Japan)

^af UNIVERSITY OF THE RYUKYUS   (Japan)

more..

Author keywords

Congenital hearing loss; DFNB4; enlarged vestibular aqueduct; goiter; Pendred syndrome; SLC26A4

Indexed keywords

PENDRIN; CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

ARTICLE; CHILD; COHORT ANALYSIS; CONGENITAL DEAFNESS; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEARING IMPAIRMENT; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MALE; PENDRED SYNDROME; PRESCHOOL CHILD; SCHOOL CHILD; VERTIGO; VESTIBULE AQUEDUCT; ADOLESCENT; ADULT; ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; CASE CONTROL STUDY; COMPUTER ASSISTED TOMOGRAPHY; EXON; GENE FREQUENCY; GENETIC ASSOCIATION; GENETICS; GENOTYPE; HEARING LOSS; HEARING TEST; INFANT; JAPAN; MIDDLE AGED; MUTATION; NEWBORN; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EXONS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HEARING LOSS; HEARING TESTS; HUMANS; INFANT; INFANT, NEWBORN; JAPAN; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MUTATION; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 84901406127     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.12     Document Type: Article

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