Suchergebnisse - "HPS3 protein, human"

PubPharm (28)

1

Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

enthalten in: Genes | 2023

von Zaman, Q. | Sadeeda | Anas, M. | +11

2

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome

enthalten in: BioMed research international | 2021

von Wang, Z. | Liu, Y. | Dong, Y. | +3

3

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3

enthalten in: Platelets | 2020

von Lecchi, A. | La Marca, S. | Femia, E. | +5

4

Novel Brown Coat Color (Cocoa) in French Bulldogs Results from a Nonsense Variant in HPS3

enthalten in: Genes | 2020

von Kiener, S. | Kehl, A. | Loechel, R. | +5

5

Hermansky-Pudlak syndrome : Mutation update

enthalten in: Human mutation | 2020

von Huizing, M. | Malicdan, M. | Wang, J. | +7

6

Subclinical hypopigmentation of the skin and hair in a Japanese patient with Hermansky-Pudlak syndrome type 3

enthalten in: The Journal of dermatology | 2020

von Saito, S. | Tanaka, R. | Sasaki, T. | +7

7

BioID screen of Salmonella type 3 secreted effectors reveals host factors involved in vacuole positioning and stability during infection

enthalten in: Nature microbiology | 2019

von D'Costa, V. | Coyaud, E. | Boddy, K. | +6

8

Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia

enthalten in: Zhonghua yi xue za zhi | 2018

von Miao, L. | Gan, F. | Gong, Y. | +6

9

Novel mutation in two brothers with Hermansky Pudlak syndrome type 3

enthalten in: Blood cells, molecules & diseases | 2017

von Sandrock-Lang, K. | Bartsch, I. | Buechele, N. | +4

10

Cutaneous freckling : Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism

enthalten in: Ophthalmic genetics | 2017

von Arcot Sadagopan, K. | Kathirvel, R. | Keep, R. | +5

ErratumIn: Ophthalmic Genet. 2017 Mar-Apr;38(2):200. - PMID 27484007