Detection of heterozygous mutation in hook microtubule-tethering protein 1 in three patients with decapitated and decaudated spermatozoa syndrome.
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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
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Journal | :
Journal of medical genetics
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Date Published | :
2018
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ISSN Number | :
0022-2593
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URL | :
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29330334
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DOI | :
10.1136/jmedgenet-2016-104404
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Short Title | :
J Med Genet
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