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Article

Natural history of the Nihon (Bhd gene mutant) rat, a novel model for human Birt-Hogg-Dubé syndrome.

Virchows Archiv : an international journal of pathology - 1 Apr 2006

Kouchi Mami, Okimoto Kazuo, Matsumoto Izumi, Tanaka Kohji, Yasuba Masashi, Hino Okio

Abstract excerpt

In the Nihon rat, an established model of hereditary renal cell carcinoma (RCC), the propensity for tumor development, is inherited as an autosomal dominant trait due to a single germline nucleotide insertion mutation in the rat Bhd ortholog. The Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disease characterized by fibrofolliculoma, pulmonary cysts, spontaneous pneumothorax, and renal neoplasm. The...

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PMID: 16447066
DOI: 10.1007/s00428-005-0142-9

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