Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.
about
Hereditary sensory neuropathy type IA disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuityClinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1The debut of a rational treatment for an inherited neuropathy?Molecular genetics of hereditary sensory neuropathies.The pyridoxal 5'-phosphate (PLP)-dependent enzyme serine palmitoyltransferase (SPT): effects of the small subunits and insights from bacterial mimics of human hLCB2a HSAN1 mutations
P2860
Q21202899-466B3E45-B364-45C9-89DF-C15B5FABA92CQ34003824-0068B06B-308A-48F0-8C97-8E2399134496Q34477997-4AF57F17-7A7D-40A1-B551-ADB4288FD166Q35013547-F870A896-4A44-43ED-934F-369A381392DEQ35578659-8ADDC5F2-4B13-498D-A84D-7BB0F50B1104Q36507162-133F751F-ADB2-4513-B5B3-61278E0BFE87Q42663096-7AF605F9-7743-4706-B342-CE4F5811DBC3
P2860
Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.
description
2001 nî lūn-bûn
@nan
2001 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Hereditary sensory neuropathy ...... in southern England and Europe
@nl
Hereditary sensory neuropathy ...... n southern England and Europe.
@ast
Hereditary sensory neuropathy ...... n southern England and Europe.
@en
type
label
Hereditary sensory neuropathy ...... in southern England and Europe
@nl
Hereditary sensory neuropathy ...... n southern England and Europe.
@ast
Hereditary sensory neuropathy ...... n southern England and Europe.
@en
prefLabel
Hereditary sensory neuropathy ...... in southern England and Europe
@nl
Hereditary sensory neuropathy ...... n southern England and Europe.
@ast
Hereditary sensory neuropathy ...... n southern England and Europe.
@en
P2093
P2860
P356
P1476
Hereditary sensory neuropathy ...... in southern England and Europe
@en
P2093
Auer-Grumbach M
Brahmbhatt SB
Dawkins JL
Nicholson GA
P2860
P304
P356
10.1086/323252
P407
P50
P577
2001-07-27T00:00:00Z