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Article

Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.

Journal of assisted reproduction and genetics - 1 May 2022

Saebnia Neda, Ebrahimzadeh-Vesal Reza, Haddad-Mashhadrizeh Aliakbar, Gholampour-Faroji Nazanin, Schinzel Albert, Neshati Zeinab, Azimi-Nezhad Mohsen

Abstract excerpt

PURPOSE: To investigate the genetic cause of nonobstructive azoospermia (NOA). METHODS: We performed whole exome sequencing (WES) on the proband who had three relatives suffering from NOA. We used a list of candidate genes which have high expression level in testis and their mutations have been reported in NOA. Sanger sequencing verified the identified variant and its structural and functional consequence was...

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Identifiers

PMID: 35486194
DOI: 10.1007/s10815-022-02433-z
PMCID: PMC9107553

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Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.PMID 35486194Read ↗

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