OCRL mutation analysis in Italian patients with Lowe syndrome.
about
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 bindingInositol polyphosphate 5-phosphatases; new players in the regulation of cilia and ciliopathiesRecognition of the F&H; motif by the Lowe syndrome protein OCRLCrystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndromeOcular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype AnalysisLowe syndrome: a single center's experience in Korea.Structures of Ras superfamily effector complexes: What have we learnt in two decades?OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin.An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.
P2860
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P2860
OCRL mutation analysis in Italian patients with Lowe syndrome.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-hans
2004年学术文章
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2004年学术文章
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2004年學術文章
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2004年學術文章
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name
OCRL mutation analysis in Italian patients with Lowe syndrome.
@en
OCRL mutation analysis in Italian patients with Lowe syndrome.
@nl
type
label
OCRL mutation analysis in Italian patients with Lowe syndrome.
@en
OCRL mutation analysis in Italian patients with Lowe syndrome.
@nl
prefLabel
OCRL mutation analysis in Italian patients with Lowe syndrome.
@en
OCRL mutation analysis in Italian patients with Lowe syndrome.
@nl
P2093
P356
P1433
P1476
OCRL mutation analysis in Italian patients with Lowe syndrome.
@en
P2093
Carmen Lepiani
Maria Addis
Maria Antonietta Melis
Milena Cau
P304
P356
10.1002/HUMU.9239
P577
2004-05-01T00:00:00Z