Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A
about
Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcriptsGermline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin FragilityA novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndromeInterferon stimulated exonuclease gene 20 kDa links psychiatric events to distinct hepatitis C virus responses in human immunodeficiency virus positive patients.Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Cerebellar involvement of Griscelli syndrome type 2Hermansky-Pudlak syndrome: vesicle formation from yeast to man.Rab GTPases implicated in inherited and acquired disorders.Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centreMotor protein diseases of the nervous system.Role of Rab27 in synaptic transmission at the squid giant synapseGriscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure."Road-Dividing Line"-Like Pigmentation of Hair as a Diagnostic Clue for Griscelli Syndrome.Griscelli syndrome type 2: a novel mutation in RAB27A gene with different clinical features in 2 siblings: a diagnostic conundrum.Griscelli syndrome types 1 and 2.Further evidence for genotype-phenotype disparity in Griscelli syndrome.Mutations in EXPH5 result in autosomal recessive inherited skin fragility.Griscelli syndrome type 2: a rare and lethal disorder.Griscelli Syndrome: A Rare Immunodeficiency Disorder with Partial Albinism
P2860
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P2860
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A
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2002 nî lūn-bûn
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2002 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
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2002 թվականի օգոստոսին հրատարակված գիտական հոդված
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2002年の論文
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2002年学术文章
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2002年学术文章
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2002年学术文章
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2002年学术文章
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Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@ast
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@en
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@nl
type
label
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@ast
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@en
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@nl
prefLabel
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@ast
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@en
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@nl
P2093
P2860
P356
P1476
Evidence that Griscelli syndro ...... mutations in RAB27A, not MYO5A
@en
P2093
Aharon Klar
Diana L Fitzpatrick
Eva Gross-Kieselstein
Gila Shazberg
Haggit Hurvitz
Paul D Anderson
William A Gahl
Yackov Berkun
Yair Anikster
P2860
P304
P356
10.1086/341606
P407
P577
2002-08-01T00:00:00Z