TY  - GEN
AU  - Farez-Vidal,M Esther
AU  - Gómez-Llorente,M Amelia
AU  - Gómez-Llorente,Carolina
AU  - Blanco,Sonia
AU  - Casas-Maldonado,Francisco
AU  - Campoy,Cristina
AU  - Gómez-Capilla,José Antonio
TI  - A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H
SN  - 1093-5266
PY  - 2008///0812
KW  - Cystic Fibrosis
KW  - genetics
KW  - Cystic Fibrosis Transmembrane Conductance Regulator
KW  - DNA Mutational Analysis
KW  - Electrophoresis, Capillary
KW  - Family
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.2350/07-07-0311.1
ER  -