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

K Farkas; B K Deak; L C Sanchez; A M V Martinez; J J V Corell; A M Botella; G M Benito; R R Lopez; T Vanecek; D V Kazakov; Joan Kromosoeto; Ans van den Ouweland; J Varga; M Szell; N Nagy

doi:10.1186/s12863-016-0346-9

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

K Farkas
, B K Deak
, L C Sanchez
, A M V Martinez
, J J V Corell
, A M Botella
, G M Benito
, R R Lopez
, T Vanecek
, D V Kazakov
, Joan Kromosoeto
, Ans van den Ouweland
, J Varga
, M Szell
, N Nagy

Clinical Genetics

Research output: Contribution to journal › Article › Academic › peer-review

14 Citations (Scopus)

Original language	Undefined/Unknown
Article number	36
Journal	BMC Genetics
Volume	17
DOIs	https://doi.org/10.1186/s12863-016-0346-9
Publication status	Published - 2016

Research programs

EMC MGC-02-96-01

Access to Document

10.1186/s12863-016-0346-9

Cite this

Farkas, K., Deak, B. K., Sanchez, L. C., Martinez, A. M. V., Corell, J. J. V., Botella, A. M., Benito, G. M., Lopez, R. R., Vanecek, T., Kazakov, D. V., Kromosoeto, J., van den Ouweland, A., Varga, J., Szell, M., & Nagy, N. (2016). 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. BMC Genetics, 17, Article 36. https://doi.org/10.1186/s12863-016-0346-9

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title = "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",

author = "K Farkas and Deak, \{B K\} and Sanchez, \{L C\} and Martinez, \{A M V\} and Corell, \{J J V\} and Botella, \{A M\} and Benito, \{G M\} and Lopez, \{R R\} and T Vanecek and Kazakov, \{D V\} and Joan Kromosoeto and \{van den Ouweland\}, Ans and J Varga and M Szell and N Nagy",

year = "2016",

doi = "10.1186/s12863-016-0346-9",

language = "Undefined/Unknown",

volume = "17",

}

Farkas, K, Deak, BK, Sanchez, LC, Martinez, AMV, Corell, JJV, Botella, AM, Benito, GM, Lopez, RR, Vanecek, T, Kazakov, DV, Kromosoeto, J, van den Ouweland, A, Varga, J, Szell, M & Nagy, N 2016, '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', BMC Genetics, vol. 17, 36. https://doi.org/10.1186/s12863-016-0346-9

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. / Farkas, K; Deak, B K; Sanchez, L C et al.
In: BMC Genetics, Vol. 17, 36, 2016.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - 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

AU - Farkas, K

AU - Deak, B K

AU - Sanchez, L C

AU - Martinez, A M V

AU - Corell, J J V

AU - Botella, A M

AU - Benito, G M

AU - Lopez, R R

AU - Vanecek, T

AU - Kazakov, D V

AU - Kromosoeto, Joan

AU - van den Ouweland, Ans

AU - Varga, J

AU - Szell, M

AU - Nagy, N

PY - 2016

Y1 - 2016

U2 - 10.1186/s12863-016-0346-9

DO - 10.1186/s12863-016-0346-9

M3 - Article

VL - 17

JO - BMC Genetics

JF - BMC Genetics

M1 - 36

ER -