Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.
about
Mutational analysis of oculocutaneous albinism: a compact reviewThe BLOS1-interacting protein KXD1 is involved in the biogenesis of lysosome-related organellesPPI finder: a mining tool for human protein-protein interactions.A nonsense mutation in the tyrosinase gene causes albinism in water buffaloDysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus.The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani populationBLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.Hypopigmentation in Hermansky-Pudlak syndrome.Tyrosinase gene mutations in the Chinese Han population with OCA1.NGS-based 100-gene panel of hypopigmentation identifies mutations in Chinese Hermansky-Pudlak syndrome patients.
P2860
Q21284502-7C8893C3-E47E-4313-B33C-D625C8EA2E49Q28510459-40A621ED-461A-4834-B773-4F785D24BAF8Q33411299-C3F600F5-1918-46C4-8919-7D5837BEFE1BQ34346234-0FA3B35C-E38F-45E1-AF08-E939E439A9BAQ34355688-F3C1638A-7D84-4320-B9CE-8349D8FDA8ABQ35628934-5F3A6D28-2A79-4180-950B-D08F00F433B7Q36510428-0C634CCE-ED5C-4986-B391-674DDCCD9630Q37545150-CD46775F-5D6C-4DCD-972B-9EF6A8E06BF8Q38106424-9DC426BF-0FBC-49EE-881E-12BAEEB7FE7CQ41596025-5ED03717-85DF-4D82-A338-D40238BB190DQ48472647-4296BFF5-8691-4498-B56A-27CFF4CE0FEA
P2860
Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database.
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@ast
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@en
type
label
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@ast
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@en
prefLabel
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@ast
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@en
P2093
P356
P1433
P1476
Mutational data integration in ...... nsky-Pudlak Syndrome database.
@en
P2093
P304
P356
10.1002/HUMU.20309
P577
2006-05-01T00:00:00Z