Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.

Human mutation

Volumn 24, Issue 5, 2004, Pages 441-

  Savino, Maria ^a   d'Apolito, Maria ^a   Formica, Vincenza ^a   Baorda, Filomena ^a   Mari, Francesca ^a   Renieri, Alessandra ^a   Carabba, Enrico ^a   Tarantino, Enrico ^a   Andreucci, Elena ^a   Belli, Serena ^a   Lo Muzio, Lorenzo ^a   Dallapiccola, Bruno ^a   Zelante, Leopoldo ^a   Savoia, Anna ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; PATCHED RECEPTORS;

ALLELE; AMINO ACID SEQUENCE; ARTICLE; BASAL CELL NEVUS SYNDROME; CHEMISTRY; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENETIC SCREENING; GENETICS; HUMAN; ITALY; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RNA SPLICING; STOP CODON;

ALLELES; AMINO ACID SEQUENCE; BASAL CELL NEVUS SYNDROME; BASE SEQUENCE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DUPLICATION; GENETIC SCREENING; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, CELL SURFACE; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 28744437736     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.9289     Document Type: Article

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