Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina
about
The adipocyte-inducible secreted phospholipases PLA2G5 and PLA2G2E play distinct roles in obesityGenetic architecture of retinal and macular degenerative diseases: the promise and challenges of next-generation sequencing.A new era of secreted phospholipase A₂Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.Identification and prediction of alternative transcription start sites that generate rod photoreceptor-specific transcripts from ubiquitously expressed genes.Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.Next-generation sequencing applied to rare diseases genomics.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia.Metabolic regulation by secreted phospholipase A2.Lipoquality control by phospholipase A2 enzymes.
P2860
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P2860
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@ast
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@en
type
label
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@ast
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@en
prefLabel
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@ast
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@en
P2093
P2860
P50
P1476
Biallelic mutations in PLA2G5, ...... A2, cause benign fleck retina
@en
P2093
Alice E Davidson
Andrew R Webster
Anthony T Moore
Eva Lenassi
Glen Jeffery
Graham E Holder
Jaimie Hoh Kam
Jonathan A Beck
Timothy W Isaacs
P2860
P304
P356
10.1016/J.AJHG.2011.11.004
P407
P577
2011-12-01T00:00:00Z