My NCBISign In

Display Settings:

Format

Send to:

Choose Destination
    Curr Protoc Hum Genet. 2010 Jan;Chapter 10:Unit 10.13.

    Identifying mutations for MYH-associated polyposis.

    Prior TW, Bridgeman SJ.

    Source

    Ohio State University, Columbus, Ohio, USA.

    Abstract

    Polyposis associated with mutations in the gene MYH is an autosomal recessive syndrome characterized by the development of colorectal adenomas and cancer. Two common mutations, p.Tyr165Cys (exon 7) and p.Glu382Asp (exon 13), have been shown to account for the majority of the mutations occurring in individuals of Caucasian ancestry. Other mutations have been found throughout the gene and many have been shown to have very low frequencies. Ethnic differences in the mutation spectrum have also been observed. Thus, in order to achieve the highest clinical sensitivity, it is necessary to perform whole-gene sequencing of the MYH gene. The sequencing protocol described allows one to identify mutations throughout the MYH gene.

    Copyright 2010 by John Wiley & Sons, Inc.

    PMID:
    20063264
    [PubMed - indexed for MEDLINE]

    MeSH Terms, Substances

    MeSH Terms

    Substances

    LinkOut - more resources

    Full Text Sources

      Supplemental Content

      Icon for John Wiley & Sons, Inc.

      Save items

      loading

      Related citations in PubMed

      See reviews... See all...

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      You are here: NCBI > Literature > PubMed
      Write to the Help Desk