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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.

Recently, the gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1 (polycystic kidney disease 1), has been fully characterized and shown to encode an integral membrane protein, polycystin, involved in cell-cell and/or cell-matrix interactions. Study of the PKD1...

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Autors principals: Peral, B., San Millán, J. L., Ong, A. C., Gamble, V., Ward, C. J., Strong, C., Harris, P. C.
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914963/
https://ncbi.nlm.nih.gov/pubmed/8554072
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