Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
about
Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinismBLOC-1 deficiency causes alterations in amino acid profile and in phospholipid and adenosine metabolism in the postnatal mouse hippocampus.Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Utility of next generation sequencing in clinical primary immunodeficiencies.Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani populationNatural killer cell deficiency.Molecular determinants of platelet delta storage pool deficiencies: an update.Hypopigmentation in Hermansky-Pudlak syndrome.Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.Pallidin protein in neurodevelopment and its relation to the pathogenesis of schizophrenia.Primary immunodeficiences--options for the future.Neurodevelopmental disease mechanisms, primary cilia, and endosomes converge on the BLOC-1 and BORC complexes.Hermansky-Pudlak syndrome: Report of two patients with updated genetic classification and management recommendations.Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.The Immunome in Two Inherited Forms of Pulmonary Fibrosis.Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.Hermansky-Pudlak Syndrome.Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation.
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P2860
Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
description
im März 2012 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в березні 2012
@uk
name
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@en
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@nl
type
label
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@en
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@nl
prefLabel
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@en
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@nl
P2093
P50
P1433
P1476
Exome sequencing reveals a pal ...... mary immunodeficiency syndrome
@en
P2093
Alberto Prandini
Alessandro Plebani
Callum J Bell
Carol J Saunders
Darrell L Dinwiddie
Francesca Colombo
Gary P Schroth
Giovanna Tabellini
Maria E Cantarini
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P356
10.1182/BLOOD-2012-01-404350
P407
P577
2012-03-29T00:00:00Z