Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.

Robertson, N G; Hamaker, S A; Patriub, V; Aster, J C; Morton, C C

Robertson, N G; Hamaker, S A; Patriub, V; Aster, J C; Morton, C C.

Affiliation

Robertson NG; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA.

J Med Genet ; 40(7): 479-86, 2003 Jul.

Article in En | MEDLINE | ID: mdl-12843317

Subject(s)

Hearing Loss, Sensorineural/genetics; Protein Processing, Post-Translational; Proteins/metabolism; Vestibular Diseases/genetics; 3T3 Cells; Animals; Blotting, Western; COS Cells; Cell Line; Extracellular Matrix Proteins; Glycosylation; Humans; Immunohistochemistry; Mice; Mutation; Mutation, Missense; Plasmids/genetics; Proteins/genetics; Transfection

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Vestibular Diseases / Protein Processing, Post-Translational / Hearing Loss, Sensorineural Limits: Animals / Humans Language: En Journal: J Med Genet Year: 2003 Document type: Article Affiliation country: United States Country of publication: United kingdom

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