Ontology highlight
ABSTRACT:
SUBMITTER: Schrijver I
PROVIDER: S-EPMC1867528 | biostudies-literature | 2005 May
REPOSITORIES: biostudies-literature
Schrijver Iris I Ramalingam Sudha S Sankaran Ramalingam R Swanson Steve S Dunlop Charles L M CL Keiles Steven S Moss Richard B RB Oehlert John J Gardner Phyllis P Wassman E Robert ER Kammesheidt Anja A
The Journal of molecular diagnostics : JMD 20050501 2
Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis. The mutation spectrum in Hispanics, however, remains poorly defined. A group of 257 self-identified Hispanics with clinical manifestations consistent with CF were studied by temporal temperature gradient electrophoresis and/or DNA sequencing. A total of 183 mutations were identified, including 1 ...[more]