Diagnostic Testing by CFTR Gene Mutation Analysis in a Large Group of Hispanics: Novel Mutations and Assessment of a Population-Specific Mutation Spectrum

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-identif...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Schrijver, Iris, Ramalingam, Sudha, Sankaran, Ramalingam, Swanson, Steve, Dunlop, Charles L.M., Keiles, Steven, Moss, Richard B., Oehlert, John, Gardner, Phyllis, Wassman, E. Robert, Kammesheidt, Anja
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: American Society for Investigative Pathology 2005
Θέματα:
Regular Articles
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867528/
https://ncbi.nlm.nih.gov/pubmed/15858154
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