phospholipase DDHD1 isoform X2 [Homo sapiens]

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Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation. [Eur J Med Genet. 2017]
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation.
Dard R, Meyniel C, Touitou V, Stevanin G, Lamari F, Durr A, Ewenczyk C, Mochel F. Eur J Med Genet. 2017 Dec; 60(12):639-642. Epub 2017 Aug 14.
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia. [Eur J Med Genet. 2016]
A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.
Miura S, Morikawa T, Fujioka R, Kosaka K, Yamada K, Hattori G, Motomura M, Taniwaki T, Shibata H. Eur J Med Genet. 2016 Aug; 59(8):413-6. Epub 2016 May 20.
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations. [J Neurol. 2014]
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.
Liguori R, Giannoccaro MP, Arnoldi A, Citterio A, Tonon C, Lodi R, Bresolin N, Bassi MT. J Neurol. 2014 Sep; 261(9):1789-93. Epub 2014 Jul 3.

RefSeq genomic sequence
See the genomic reference sequence for the DDHD1 gene (NG_042832.1).
RefSeq mRNA
See reference mRNA sequence for the DDHD1 gene (XM_005268102.3).

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XP_005268159 [Domain Mapping of Disease Mut...]
XP_005268159
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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