The most accurate determination of CFTR gene mutations is now essential for proper genetic counseling of couples increasingly require assisted conception. This deletion was detected in IVS 20 of CFTR gene by DGGE analysis and confirmed by Sequencing in a adult patient with oligospermia undergoing screening due to infertility treatment.
Mutation Details for 4005+23delA.
ANGIUS, Antonella;STASI, Mario;BECCHETTI, TIZIANA;FURBETTA, Mario
2008
Abstract
The most accurate determination of CFTR gene mutations is now essential for proper genetic counseling of couples increasingly require assisted conception. This deletion was detected in IVS 20 of CFTR gene by DGGE analysis and confirmed by Sequencing in a adult patient with oligospermia undergoing screening due to infertility treatment.File in questo prodotto:
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