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A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tu...

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tu...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03369854v1

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome

About this item

Full title

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Human genetics, 2021-07, Vol.140 (7), p.1031-1043

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Cilia and flagella are formed around an evolutionary conserved microtubule-based axoneme and are required for fluid and mucus clearance, tissue homeostasis, cell differentiation and movement. The formation and maintenance of cilia and flagella require bidirectional transit of proteins along the axonemal microtubules, a process called intraflagellar...

Alternative Titles

Full title

A missense mutation in IFT74, encoding for an essential component for intraflagellar transport of Tubulin, causes asthenozoospermia and male infertility without clinical signs of Bardet–Biedl syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_hal_primary_oai_HAL_hal_03369854v1

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03369854v1

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-021-02270-7

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