A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is G to T change at nucleotide 3599 in exon 18 which would lead to an leucine to phenylalanine replacement in the protien sequence at residue 1156(L1156F). This mutation has been found in an adult, Japanese healthy female who was studied for couple's infertility.
Mutation Details for L1156F.
ANGIUS, Antonella;STASI, Mario;FURBETTA, Mario
2007
Abstract
A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is G to T change at nucleotide 3599 in exon 18 which would lead to an leucine to phenylalanine replacement in the protien sequence at residue 1156(L1156F). This mutation has been found in an adult, Japanese healthy female who was studied for couple's infertility.File in questo prodotto:
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