Apparent Homozygosity of a Novel Frame Shift Mutation in the CFTR Gene Because of a Large Deletion

Patients develop cystic fibrosis because of a variety of homozygous recessive mutations, including single nucleotide polymorphisms, insertions, and deletions, in the cystic fibrosis transmembrane regulator (CFTR) gene, or because of compound heterozygosity for two mutations in the CFTR gene. A false...

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Detalhes bibliográficos
Main Authors: Hantash, Feras M., Rebuyon, Arlene, Peng, Mei, Redman, Joy B., Sun, Weimin, Strom, Charles M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2009
Assuntos:
Consultations in Molecular Diagnostics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2671343/
https://ncbi.nlm.nih.gov/pubmed/19324987
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2009.080117
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