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Article

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.

Advances in experimental medicine and biology - 1 Jan 2008

Köhn Linda, Kadzhaev Konstantin, Burstedt Marie S I, Haraldsson Susann, Sandgren Ola, Golovleva Irina

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Identifiers

PMID: 18188949
DOI: 10.1007/978-0-387-74904-4_26

Genes

PITPNM3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.PMID 18188949Read ↗

Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.Semantic proximity Read ↗

PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.Semantic proximity Read ↗

Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.Semantic proximity Read ↗

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