A Novel Missense Mutation in the Sodium Bicarbonate Cotransporter (NBCe1/SLC4A4) Causes Proximal Tubular Acidosis and Glaucoma through Ion Transport Defects

DINOUR D; CHANG M-H; SATOH J; SMITH B L; ANGLE N; KNECHT A; SERBAN I; HOLTZMAN E J; ROMERO M F

Art

J-GLOBAL ID：200902215605318590 Reference number：05A0023785

A Novel Missense Mutation in the Sodium Bicarbonate Cotransporter (NBCe1/SLC4A4) Causes Proximal Tubular Acidosis and Glaucoma through Ion Transport Defects

ナトリウム重炭酸共輸送体(NBCe1/SLC4A4)における新規なミスセンス変異はイオン輸送の欠陥から近位尿細管性アシドーシスと緑内障を引き起こす

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Material：
Volume： 279 Issue： 50 Page： 52238-52246 Publication year： Dec. 10, 2004
JST Material Number： E0038A ISSN： 0021-9258 CODEN： JBCHA3 Document type： Article
Article type：原著論文 Country of issue： United States (USA) Language： ENGLISH (EN)

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Transport of cell membrane , Genetic variation , Metabolic diseases,nutritional diseases in general. , Basic ophthalmology

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