Detection of Cystic Fibrosis Mutations by Peptide Mass Signature Genotyping
Author(s) -
David E Malehorn,
Cheryl A. Telmer,
Sherri B. McEwen,
Jiyan An,
Ashley D. Kinsey,
Adam C. Retchless,
Christopher J. Mason,
William M Vieta,
Jonathan W. Jarvik
Publication year - 2003
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 - 10.1373/49.8.1318
Subject(s) - microbiology and biotechnology , cystic fibrosis transmembrane conductance regulator , genotyping , biology , genomic dna , dna sequencing , gene , dna , chemistry , genetics , genotype
The diversity of genetic mutations and polymorphisms calls for the development of practical detection methods capable of assessing more than one patient/one nucleotide position per analysis.
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