Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
about
Biased exon/intron distribution of cryptic and de novo 3' splice sitesDominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaPrevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.
P2860
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
description
1997 nî lūn-bûn
@nan
1997 թուականին հրատարակուած գիտական յօդուած
@hyw
1997 թվականին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Identification of mutations ca ...... iency in four Italian families
@ast
Identification of mutations ca ...... iency in four Italian families
@en
Identification of mutations ca ...... iency in four Italian families
@nl
type
label
Identification of mutations ca ...... iency in four Italian families
@ast
Identification of mutations ca ...... iency in four Italian families
@en
Identification of mutations ca ...... iency in four Italian families
@nl
prefLabel
Identification of mutations ca ...... iency in four Italian families
@ast
Identification of mutations ca ...... iency in four Italian families
@en
Identification of mutations ca ...... iency in four Italian families
@nl
P2093
P2860
P1433
P1476
Identification of mutations ca ...... iency in four Italian families
@en
P2093
A Matasovic
C W Heizmann
T Oppliger
P2860
P356
10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L
P407
P577
1997-01-01T00:00:00Z