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Mutations of the Birt–Hogg–Dubé gene in patients with multiple lung cysts and recurrent pneumothorax

RATIONALE: Birt–Hogg–Dubé (BHD) syndrome, a rare inherited autosomal genodermatosis first recognised in 1977, is characterised by fibrofolliculomas of the skin, an increased risk of renal tumours and multiple lung cysts with spontaneous pneumothorax. The BHD gene, a tumour suppressor gene located at...

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Bibliografske podrobnosti
Main Authors: Gunji, Yoko, Akiyoshi, Taeko, Sato, Teruhiko, Kurihara, Masatoshi, Tominaga, Shigeru, Takahashi, Kazuhisa, Seyama, Kuniaki
Format: Artigo
Jezik:Inglês
Izdano: BMJ Group 2007
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2597956/
https://ncbi.nlm.nih.gov/pubmed/17496196
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049874
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