Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
about
Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster.Human inversions and their functional consequencesFamilial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Hermansky-Pudlak Syndrome.Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
P2860
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P2860
Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
description
2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2013 թվականի ապրիլին հրատարակված գիտական հոդված
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
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2013年論文
@zh-mo
2013年論文
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2013年论文
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name
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@ast
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@en
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@nl
type
label
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@ast
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@en
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@nl
prefLabel
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@ast
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@en
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@nl
P2093
P2860
P356
P1433
P1476
Disruption of AP3B1 by a chrom ...... rmansky-Pudlak syndrome type 2
@en
P2093
Andrew D Mumford
Claire Brooks
Matthew L Jones
Richard A Manning
Sherina L Murden
Subarna Chakravorty
Vandana Bharadwaj
Viv Maloney
P2860
P2888
P356
10.1186/1471-2350-14-42
P577
2013-04-04T00:00:00Z
P5875
P6179
1018356706