Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient

MeSH terms

• Alleles
• Base Sequence
• Cystic Fibrosis / genetics*
• Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
• DNA Mutational Analysis
• Founder Effect*
• Hispanic or Latino / genetics
• Humans
• Infant, Newborn
• Male
• Mutation*
• Poly T / genetics