Multiplex Ligation-Dependent Probe Amplification Identification of Whole Exon and Single Nucleotide Deletions in the CFTR Gene of Hispanic Individuals with Cystic Fibrosis
Author:
Publisher
Elsevier BV
Subject
Molecular Medicine,Pathology and Forensic Medicine
Reference51 articles.
1. Generation of cAMP-activated chloride currents by expression of CFTR;Anderson;Science,1991
2. CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP;Schwiebert;Cell,1995
3. Cystic fibrosis;Welsh,2001
4. Review of the abdominal manifestations of cystic fibrosis in the adult patient;Robertson;Radiographics,2006
5. Cystic fibrosis-related diabetes;Mackie;Diabet Med,2003
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