The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

BACKGROUND: Multiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The disease...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Genet
Prif Awduron: Farkas, Katalin, Deák, Barbara Kocsis, Sánchez, Laura Cubells, Martínez, Ana Mercedes Victoria, Corell, Juan José Vilata, Botella, Alfredo Montoro, Benito, Goitzane Marcaida, López, Raquel Rodríguez, Vanecek, Tomas, Kazakov, Dmitry V., Kromosoeto, Joan N. R., van den Ouweland, Ans M. W., Varga, János, Széll, Márta, Nagy, Nikoletta
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2016
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746830/
https://ncbi.nlm.nih.gov/pubmed/26861065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12863-016-0346-9
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