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PubMed (OMIM) for id: 83394
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AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3.
Retin Cases Brief Rep. 2018 Fall;12 Suppl 1(Suppl 1):S72-S75. doi: 10.1097/ICB.0000000000000673.
Retin Cases Brief Rep. 2018.
PMID: 29176531
Free PMC article.
Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
Reinis A, Golovleva I, Köhn L, Sandgren O.
Reinis A, et al.
Acta Ophthalmol. 2013 May;91(3):259-66. doi: 10.1111/j.1755-3768.2011.02381.x. Epub 2012 Mar 9.
Acta Ophthalmol. 2013.
PMID: 22405330
Free article.
Item in Clipboard
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Köhn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I.
Köhn L, et al.
Eur J Hum Genet. 2007 Jun;15(6):664-71. doi: 10.1038/sj.ejhg.5201817. Epub 2007 Mar 21.
Eur J Hum Genet. 2007.
PMID: 17377520
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Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3.
Ocaka L, Spalluto C, Wilson DI, Hunt DM, Halford S.
Ocaka L, et al.
Cytogenet Genome Res. 2005;108(4):293-302. doi: 10.1159/000081519.
Cytogenet Genome Res. 2005.
PMID: 15627748
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Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein.
Lev S, Hernandez J, Martinez R, Chen A, Plowman G, Schlessinger J.
Lev S, et al.
Mol Cell Biol. 1999 Mar;19(3):2278-88. doi: 10.1128/MCB.19.3.2278.
Mol Cell Biol. 1999.
PMID: 10022914
Free PMC article.
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A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13.
Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K.
Balciuniene J, et al.
Genomics. 1995 Nov 20;30(2):281-6. doi: 10.1006/geno.1995.9876.
Genomics. 1995.
PMID: 8586428
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