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Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic m...

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic m...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_078af173188c4adb858332ae057a3a05

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Publication information

Publisher

England: eLife Sciences Publications Ltd

More information

Scope and Contents

Contents

From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the
gene. In somatic cells, CCDC146 is located at the centrosome and at multiple microtubule-related organelles during mitotic division, suggesting that it is a microtubule-associ...

Alternative Titles

Full title

Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_078af173188c4adb858332ae057a3a05

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_078af173188c4adb858332ae057a3a05

Other Identifiers

ISSN

2050-084X

E-ISSN

2050-084X

DOI

10.7554/eLife.86845

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