Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency
about
Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolismHyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthasePhenylketonuria: translating research into novel therapiesCrystal structure of rat liver dihydropteridine reductaseNature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry diseaseScreening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutationMutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
P2860
Q24514984-8490A764-D0C1-4406-AED7-492E85711561Q24670476-BAE9C7D0-3DF2-4883-9AF9-BED55E194560Q24672904-0CA1BE30-7426-4FFA-92B6-E86D55FA8A03Q27015749-05C25C7B-3C51-48CA-BB8D-F5046C3E09AEQ28582826-DF480266-3B05-4D14-A114-8E128AD621CEQ28633785-691EDBA5-7398-4446-AEC2-181E7EAC4433Q35196431-52A571DC-4397-4F43-AE88-6FB4CA4A0898Q35196953-3FEB2F4E-9750-47C6-AD3E-BA1D0D42318DQ37127688-E38D89D2-55B7-4C34-885B-49EC699752B1
P2860
Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency
description
1990 nî lūn-bûn
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1990 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Insertion of an extra codon fo ...... pteridine reductase deficiency
@ast
Insertion of an extra codon fo ...... pteridine reductase deficiency
@en
Insertion of an extra codon fo ...... pteridine reductase deficiency
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type
label
Insertion of an extra codon fo ...... pteridine reductase deficiency
@ast
Insertion of an extra codon fo ...... pteridine reductase deficiency
@en
Insertion of an extra codon fo ...... pteridine reductase deficiency
@nl
prefLabel
Insertion of an extra codon fo ...... pteridine reductase deficiency
@ast
Insertion of an extra codon fo ...... pteridine reductase deficiency
@en
Insertion of an extra codon fo ...... pteridine reductase deficiency
@nl
P2093
P2860
P1476
Insertion of an extra codon fo ...... pteridine reductase deficiency
@en
P2093
P2860
P304
P407
P577
1990-08-01T00:00:00Z