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Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome.

Author
Abstract
:

The mechanism of intramanchette transport is crucial to the transformation of sperm tail and the nuclear condensation during spermiogenesis. Although few dysfunctional proteins could result in abnormal junction between the head and tail of spermatozoon, little is known about the genetic cues in this process.

Year of Publication
:
2018
Journal
:
Journal of medical genetics
Date Published
:
2018
ISSN Number
:
0022-2593
URL
:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29330334
DOI
:
10.1136/jmedgenet-2016-104404
Short Title
:
J Med Genet
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