Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
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Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis LaxaALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismData on single-step purification method for dye-labeled DNA sequencing.Positional plasticity in regenerating Amybstoma mexicanum limbs is associated with cell proliferation and pathways of cellular differentiation.Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegiaTranscriptomic profiling in muscle and adipose tissue identifies genes related to growth and lipid deposition.
P2860
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
description
2014 nî lūn-bûn
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2014年の論文
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2014年論文
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2014年論文
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2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
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2014年论文
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name
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@en
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@nl
type
label
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@en
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@nl
prefLabel
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@en
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@nl
P2093
P2860
P50
P356
P1476
Loss of ALDH18A1 function is a ...... 3A and Warburg Micro syndrome.
@en
P2093
Alison M Meynert
André Mégarbané
Elisabeth Freyer
Irene A Aligianis
Stephen Brown
P2860
P304
P356
10.1002/MGG3.70
P577
2014-03-11T00:00:00Z