Validation of cystic fibrosis mutation analysis using ABI 3130XL genetic analyzer

Diagnostic Molecular Pathology

Volumn 16, Issue 1, 2007, Pages 57-59

  Huang, Chih Kang ^a   Pan, Qiulu ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

ABI Genetic Analyzer; Cystic fibrosis testing

Indexed keywords

POLYMER;

ARTICLE; BLOOD SAMPLING; CYSTIC FIBROSIS; DNA DETERMINATION; GENE MUTATION; GENETIC ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VALIDATION PROCESS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; HUMANS; LUNG DISEASES; MUTATION;

EID: 34247552707     PISSN: 10529551     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.pdm.0000213474.15796.2c     Document Type: Article

References (4)

1. Gibson RL, Burns JL, Ramsey BW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med. 2003;168:918-951.
2. Watson MS, Cutting GR, Desnick RJ, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6:387-391.
3. Amos J, Feldman GL, Grody WW, et al. Technical Standards and Guidelines for CFTR Mutation Testing. www.acmg.net.
4. Cuppens H, Lin W, Jaspers M, et al. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest. 1998;101:487-496.