Cystic fibrosis screening using the College panel: Platform comparison and lessons learned from the first 20,000 samples
Open Access
- 1 July 2002
- journal article
- research article
- Published by Elsevier in Genetics in Medicine
- Vol. 4 (4), 289-296
- https://doi.org/10.1097/00125817-200207000-00007
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic CaucasiansGenetics in Medicine, 2002
- Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panelGenetics in Medicine, 2001
- Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counsellingHuman Genetics, 2001
- Laboratory standards and guidelines for population-based cystic fibrosis carrier screeningGenetics in Medicine, 2001
- Functional Analysis of cis-Acting Elements Regulating the Alternative Splicing of Human CFTR Exon 9Human Molecular Genetics, 1999
- Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas DeferensNew England Journal of Medicine, 1995
- Frequent Occurrence of the CFTR Intron 8 (TG)n 5T Allele in Men with Congenital Bilateral Absence of the Vas DeferensEuropean Journal of Human Genetics, 1995
- Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNANature Genetics, 1993