Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Item
http://www.wikidata.org/entity/Q34576269
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsX-linked creatine transporter deficiency: clinical aspects and pathophysiology.Variability of Creatine Metabolism Genes in Children with Autism Spectrum Disorder.A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
P2860

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Item
http://www.wikidata.org/entity/Q34576269
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Characterization of novel SLC6 ...... newly developed LOVD database
@ast
Characterization of novel SLC6 ...... newly developed LOVD database
@en
Characterization of novel SLC6 ...... newly developed LOVD database
@nl
type
label
Characterization of novel SLC6 ...... newly developed LOVD database
@ast
Characterization of novel SLC6 ...... newly developed LOVD database
@en
Characterization of novel SLC6 ...... newly developed LOVD database
@nl
prefLabel
Characterization of novel SLC6 ...... newly developed LOVD database
@ast
Characterization of novel SLC6 ...... newly developed LOVD database
@en
Characterization of novel SLC6 ...... newly developed LOVD database
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
Characterization of novel SLC6 ...... newly developed LOVD database
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932