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Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Birt-Hogg-Dube syndrome (BHD, OMIM#135150) is a rare disease in clinic; it is characterized by skin fibrofolliculomas, pulmonary cysts with an increased risk of recurrent pneumothorax, renal cysts, and renal neoplasms. Previous studies have demonstrated that variants in folliculin (FLCN, NM_144997)...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Biomed Res Int |
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| Κύριοι συγγραφείς: | , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Hindawi
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5529666/ https://ncbi.nlm.nih.gov/pubmed/28785590 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/8751384 |
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