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The RSPH4A Gene in Primary Ciliary Dyskinesia

The RSPH4A Gene in Primary Ciliary Dyskinesia

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9915723

The RSPH4A Gene in Primary Ciliary Dyskinesia

About this item

Full title

The RSPH4A Gene in Primary Ciliary Dyskinesia

Publisher

Switzerland: MDPI AG

Journal title

International journal of molecular sciences, 2023-01, Vol.24 (3), p.1936

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in the RSPH4A gene alter an important protein structure involved in ciliary pathogenesis. Radial spoke proteins, such as RSPH4A, have been conserved across multiple species. I...

Alternative Titles

Full title

The RSPH4A Gene in Primary Ciliary Dyskinesia

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9915723

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9915723

Other Identifiers

ISSN

1422-0067,1661-6596

E-ISSN

1422-0067

DOI

10.3390/ijms24031936

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