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ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786259

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Soeren Lienkamp, Carsten Bergmann, Friedhelm Hildebrandt and colleagues show that mutations in
ANKS6
cause nephronophthisis, a recessive cystic kidney disease. They further identify ANKS6 as a component of a protein module that includes INVS (NPHP2), NPHP3 and NEK8 (NPHP9).
Nephronophthisis is an autosomal recessive cystic kidney disease t...

Alternative Titles

Full title

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786259

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3786259

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.2681

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