HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
about
Biological Effects of Naturally Occurring Sphingolipids, Uncommon Variants, and Their Analogs.Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction.Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.Sphingolipids and their metabolism in physiology and disease.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.Sphingolipid metabolism in cancer signalling and therapy.V144D Mutation of Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I
P2860
Q38890587-2BC919F7-A32B-458E-8F66-1A3A91720E79Q46455308-45ADD5A7-67B6-4A18-9846-56AEC2E5CB60Q47096212-A63369DF-ADD2-4D7E-AE39-1FAD73939D38Q47374235-1265F2C2-AC87-471B-B6B8-584AC468B149Q47686004-2E9F7A0E-75B0-413F-83B3-E5EA87E81CF8Q49950035-6E1DFFF2-D6A2-4B54-8EDB-1EEAFAB06FF4Q58695256-0335D7CE-7B35-474A-A0D7-E2109E74D652
P2860
HSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.
description
2015 nî lūn-bûn
@nan
2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
HSAN1 mutations in serine palm ...... nction-phenotype relationship.
@ast
HSAN1 mutations in serine palm ...... nction-phenotype relationship.
@en
type
label
HSAN1 mutations in serine palm ...... nction-phenotype relationship.
@ast
HSAN1 mutations in serine palm ...... nction-phenotype relationship.
@en
prefLabel
HSAN1 mutations in serine palm ...... nction-phenotype relationship.
@ast
HSAN1 mutations in serine palm ...... nction-phenotype relationship.
@en
P2093
P2860
P356
P1476
HSAN1 mutations in serine palm ...... unction-phenotype relationship
@en
P2093
Arnold Von Eckardstein
Florence Bourquin
Heiko Bode
Irina Alecu
Saranya Suriyanarayanan
Thorsten Hornemann
P2860
P304
P356
10.1093/HMG/DDV611
P50
P577
2015-12-17T00:00:00Z