Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
about
Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemiaA system for specific, high-throughput genotyping by allele-specific primer extension on microarrays.Database for the mutations of the Finnish disease heritage.Genetics of population isolates.Linkage disequilibrium mapping in isolated populations: the example of Finland revisited.The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia.Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
P2860
Q24676829-D2358AD2-5EA1-47D9-A74E-6A42FBBBB8FAQ28211217-1C76044E-5FF9-4E57-81D8-B562B136D33FQ30651566-4A060F02-D0D2-40C7-A524-85BF410B127BQ34520022-62DF31A3-0769-4707-95ED-C65ABDDB27E6Q34657331-0915A757-4FCE-4C6D-AD68-3505322493CCQ34754002-80BC95CC-E06F-4660-B711-B8E076E3C507Q35625321-F92A934E-2E65-49E8-A9E1-D10E70EEF5F3Q39642408-B09EA9D1-B329-4907-828A-3CF956D41215Q40893213-5A243D3C-BAF0-4156-A0D0-EFC271344E50Q41108615-C4D0F11E-BF68-458D-B4C9-5298FDA1E5EEQ42651682-2504C2DB-8E84-4640-AD84-350C07BC2E87
P2860
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
description
1992 nî lūn-bûn
@nan
1992 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@ast
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@en
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@nl
type
label
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@ast
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@en
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@nl
prefLabel
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@ast
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@en
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@nl
P2093
P2860
P356
P1476
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia
@en
P2093
P2860
P356
10.1172/JCI115831
P407
P577
1992-07-01T00:00:00Z