Genetic testing for the enlarged vestibular aqueduct syndrome and mutation analysis of the SLC26A4 gene / 中国耳鼻咽喉头颈外科
Chinese Archives of Otolaryngology-Head and Neck Surgery
;
(12)2006.
Artigo
em Chinês
| WPRIM
| ID: wpr-528008
ABSTRACT
T,and 916-917 ins G were SLC26A4 mutations unreported hitherto, which may be specific to the Chinese population. CONCLUSION The EVA syndrome is a typical autosomal recessivehereditary disease caused by mutations in SLC26A4 gene. Genetic testing of SLC26A4 is the one of the important diagnostic methods for EVA syndrome.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Chinese Archives of Otolaryngology-Head and Neck Surgery
Ano de publicação:
2006
Tipo de documento:
Artigo
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