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

Volumn 17, Issue , 2016, Pages 36-

  Farkas, Katalin ^a   Deák, Barbara Kocsis ^a   Sánchez, Laura Cubells ^a   Martínez, Ana Mercedes Victoria ^a   Corell, Juan José Vilata ^a   Botella, Alfredo Montoro ^a   Benito, Goitzane Marcaida ^a   López, Raquel Rodríguez ^a   Vanecek, Tomas ^a   Kazakov, Dmitry V ^a   Kromosoeto, Joan N R ^b   van den Ouweland, Ans M W ^a   Varga, János ^a   Széll, Márta ^b   Nagy, Nikoletta ^a  

^a BIOPTICAL LABORATORY   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

CYLD PROTEIN, HUMAN; STOP CODON; TUMOR SUPPRESSOR PROTEIN;

AUSTRIA; DNA SEQUENCE; FEMALE; GENETICS; HAPLOTYPE; HETEROZYGOTE; HUMAN; MALE; MIDDLE AGED; NEOPLASTIC SYNDROMES, HEREDITARY; NETHERLANDS; PEDIGREE; PHENOTYPE; SKIN NEOPLASMS; SPAIN; STOP CODON;

AUSTRIA; CODON, NONSENSE; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; NEOPLASTIC SYNDROMES, HEREDITARY; NETHERLANDS; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SKIN NEOPLASMS; SPAIN; TUMOR SUPPRESSOR PROTEINS;

EID: 84995769960     PISSN: None     EISSN: 14712156     Source Type: Journal    
DOI: 10.1186/s12863-016-0346-9     Document Type: Article

References (0)