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Article

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.

Ophthalmic genetics - 1 Aug 2018

Gray Joanna Monika, Orlans Harry Otway, Shanks Morag, Clouston Penny, MacLaren Robert Elvis

Abstract excerpt

BACKGROUND: The growing number of clinical trials currently underway for inherited retinal diseases has highlighted the importance of achieving a molecular diagnosis for all new cases presenting to hospital eye services. The male germ cell-associated kinase (MAK) gene encodes a cilium-associated protein selectively expressed in the retina and testis, and has recently been implicated in autosomal recessive...

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Source

Identifiers

PMID: 29781741
DOI: 10.1080/13816810.2018.1474369

Genes

MAK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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