BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
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Title
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Authors
Keywords
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Journal
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-06-22
DOI
10.1038/s41436-020-0867-5
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- A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice
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- Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS
- (2017) Melanie M. Bryan et al. MOLECULAR GENETICS AND METABOLISM
- Clinique et génétique de l’albinisme
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Defective release of granule and lysosome contents from platelets in mouse Hermansky-Pudlak syndrome models
- (2014) R. Meng et al. BLOOD
- Hermansky-Pudlak Syndrome: Health Care Throughout Life
- (2013) S. L. Seward et al. PEDIATRICS
- High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene
- (2013) Fanny Morice-Picard et al. Pigment Cell & Melanoma Research
- Increasing the complexity: new genes and new types of albinism
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- SLC35D3 delivery from megakaryocyte early endosomes is required for platelet dense granule biogenesis and is differentially defective in Hermansky-Pudlak syndrome models
- (2012) R. Meng et al. BLOOD
- Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome
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- (2009) Cédric Delevoye et al. JOURNAL OF CELL BIOLOGY
- An immunoblotting assay to facilitate the molecular diagnosis of Hermansky–Pudlak syndrome
- (2008) Ramin Nazarian et al. MOLECULAR GENETICS AND METABOLISM
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