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Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification...

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66959925

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

About this item

Full title

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

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Journal title

Human mutation, 2004-11, Vol.24 (5), p.441-441

Language

English

Formats

Publication information

Publisher

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

More information

Scope and Contents

Contents

The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant genetic disease characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantal pits, skeletal abnormalities, and calcification of the falx cerebri. The gene responsible for this syndrome is the PTCH tumor suppressor gene encoding for...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_66959925

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_66959925

Other Identifiers

ISSN

1059-7794

E-ISSN

1098-1004

DOI

10.1002/humu.9289

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