Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas

Clinical Genetics

Volumn 76, Issue 5, 2009, Pages 481-485

  Nasti, S ^a   Pastorino, L ^a   Bruno, W ^a   Gargiulo, S ^a   Battistuzzi, L ^a   Zavattaro, E ^b   Leigheb, G ^b   De Francesco, V ^c   Tulli, A ^d   Mari, F ^e   Scarrà, G Bianchi ^f   Ghiorzo, P ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^c UNIVERSITY OF UDINE   (Italy)

^d UNIVERSITY OF CHIETI   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOTIDE;

ADULT; AGED; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CYLINDROMA; EXON; FEMALE; FRAMESHIFT MUTATION; GENE FUNCTION; GENE MUTATION; GERM LINE; HUMAN; ITALY; LETTER; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PENETRANCE; PRIORITY JOURNAL; SKIN NODULE; SOMATIC MUTATION; STOP CODON; TUMOR SUPPRESSOR GENE;

AGED; CARCINOMA, ADENOID CYSTIC; FEMALE; GERM-LINE MUTATION; HUMANS; ITALY; MALE; MIDDLE AGED; TUMOR SUPPRESSOR PROTEINS;

EID: 70449445697     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2009.01259.x     Document Type: Letter

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