Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

Item
http://www.wikidata.org/entity/Q51775482
Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomesArthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical featuresInvolvement of corneodesmosome degradation and lamellar granule transportation in the desquamation processCurrent Strategies in Diagnosis of Inherited Storage Pool DefectsThe full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila.Metazoan cell biology of the HOPS tethering complexThe Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated HemorrhageTwo novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China.ARC syndrome with high GGT cholestasis caused by VPS33B mutations.Endocytosis and signaling: cell logistics shape the eukaryotic cell plan.Inherited secondary nephrogenic diabetes insipidus: concentrating on humans.Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes.ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination.Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.
P2860

Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

Item
http://www.wikidata.org/entity/Q51775482
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@en
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@nl
type
label
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@en
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@nl
prefLabel
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@en
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P577
P698
P356
P1433
P1476
Clinical characteristics and VPS33B mutations in patients with ARC syndrome.
@en
P2093
P304
P31
P356
10.1097/MPG.0B013E31817FCB3F
P407
P433
P478
P577
P698