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Rapid Screening of 4000 Individuals for Germ-line Variations in the BRAF Gene
Author(s) -
Michael R. James,
Troy Dumeni,
Mitchell Stark,
David L. Duffy,
Grant W. Montgomery,
Nicholas G. Martin,
Nicholas K. Hayward
Publication year - 2006
Publication title -
clinical chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.705
H-Index - 218
eISSN - 1530-8561
pISSN - 0009-9147
DOI - 10.1373/clinchem.2006.070169
Subject(s) - melanoma , germline , valine , germline mutation , biology , gene , cancer research , genetics , somatic cell , microbiology and biotechnology , mutation , amino acid
The BRAF gene is frequently somatically altered in malignant melanoma. A majority of variations are at the valine 600 residue leading to a V600E substitution that constitutively activates the kinase. We screened 4000 patient and control DNAs for germ-line variations at the valine 600 residue.

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