Article
Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay.
Fertility and sterility - 1 Mar 2011
Miolo Gianmaria, Crovatto Marina, Manno Massimo, Pivetta Barbara, Tessitori Giovanni, Picci Luigi
Abstract excerpt
OBJECTIVE: To explain the lack of genotype-phenotype correlation observed in a patient double heterozygous for the 852del22 and F508del mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. DESIGN: Case report. SETTING: Medical laboratory department. PATIENT(S): A 42-y...
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