Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma

American Journal of Dermatopathology

Volumn 33, Issue 6, 2011, Pages 640-642

  Linos, Konstantinos ^a   Schwartz, Joseph ^b   Kazakov, Dmitry V ^c   Vanecek, Tomas ^c   Carlson, J Andrew ^a  

^a ALBANY MEDICAL COLLEGE   (United States)

^b Charles University Medical Faculty Hospital ^*

^c CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

AFRICAN AMERICAN; AGED; CASE REPORT; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; LETTER; NONSENSE MUTATION; OVARY FOLLICLE; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; SOMATIC MUTATION; TISSUE MICROARRAY; TRICHOEPITHELIOMA;

EID: 79961207791     PISSN: 01931091     EISSN: 15330311     Source Type: Journal    
DOI: 10.1097/DAD.0b013e318209070a     Document Type: Letter

References (18)

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