Einwärts-gleichrichtender Kaliumkanal 13

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Sergouniotis PI et al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Khan AO et al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.

Pattnaik BR et al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).

Krapivinsky G et al. (1998) A novel inward rectifier K+ channel with unique pore properties.

Partiseti M et al. (1998) Cloning and characterization of a novel human inwardly rectifying potassium channel predominantly expressed in small intestine.

Derst C et al. (1998) Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13).

Hejtmancik JF et al. (2008) Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration.

Zhang W et al. (2013) Characterization of the R162W Kir7.1 mutation associated with snowflake vitreoretinopathy.

Zhong H et al. (2015) CRISPR-engineered mosaicism rapidly reveals that loss of Kcnj13 function in mice mimics human disease phenotypes.

NCBI article

OMIM.ORG article

Orphanet article