标题
BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-06-22
DOI
10.1038/s41436-020-0867-5
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Hermansky–Pudlak syndrome: Mutation update
- (2020) Marjan Huizing et al. HUMAN MUTATION
- The road to lysosome‐related organelles: Insights from Hermansky‐Pudlak syndrome and other rare diseases
- (2019) Shanna L. Bowman et al. TRAFFIC
- Lysosome-related organelles as functional adaptations of the endolysosomal system
- (2019) Cédric Delevoye et al. CURRENT OPINION IN CELL BIOLOGY
- Albinism: An Underdiagnosed Condition
- (2019) Benoit Arveiler et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Molecular characterization of a series of 990 index patients with albinism
- (2018) Eulalie Lasseaux et al. Pigment Cell & Melanoma Research
- A Mutation in the Borcs7 Subunit of the Lysosome Regulatory BORC Complex Results in Motor Deficits and Dystrophic Axonopathy in Mice
- (2018) John N. Snouwaert et al. Cell Reports
- 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
- (2017) Benoit Arveiler et al. PRESSE MEDICALE
- BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers
- (2016) Megan K. Dennis et al. JOURNAL OF CELL BIOLOGY
- A new type of syndromic albinism associated with mutations inAP3D1
- (2016) Lluis Montoliu et al. Pigment Cell & Melanoma Research
- BORC, a Multisubunit Complex that Regulates Lysosome Positioning
- (2015) Jing Pu et al. DEVELOPMENTAL CELL
- 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
- (2013) Lluís Montoliu et al. Pigment Cell & Melanoma Research
- 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
- (2012) R. Badolato et al. BLOOD
- Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel
- (2012) B. B. Dawood et al. BLOOD
- AP-1 and KIF13A coordinate endosomal sorting and positioning during melanosome biogenesis
- (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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