Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
about
Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD databaseClinical significance of a point mutation in DNA polymerase beta (POLB) gene in gastric cancerCreatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.X-linked creatine transporter deficiency: clinical aspects and pathophysiology.Creatine transporter deficiency: Novel mutations and functional studies.Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.Disorders of creatine transport and metabolism.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.Clinical features and X-inactivation in females heterozygous for creatine transporter defect.Defining the pathogenicity of creatine deficiency syndrome.
P2860
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P2860
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Detection of low-level somatic ...... family with SLC6A8 deficiency.
@en
Detection of low-level somatic ...... family with SLC6A8 deficiency.
@nl
type
label
Detection of low-level somatic ...... family with SLC6A8 deficiency.
@en
Detection of low-level somatic ...... family with SLC6A8 deficiency.
@nl
prefLabel
Detection of low-level somatic ...... family with SLC6A8 deficiency.
@en
Detection of low-level somatic ...... family with SLC6A8 deficiency.
@nl
P2093
P2860
P1433
P1476
Detection of low-level somatic ...... family with SLC6A8 deficiency
@en
P2093
Arjan P M de Brouwer
Ben C J Hamel
Cornelis Jakobs
Cristina Martínez-Muñoz
Gajja S Salomons
Grazia M S Mancini
Jiddeke M van de Kamp
Marjo S van der Knaap
Ofir T Betsalel
Petra J W Pouwels
P2860
P2888
P304
P356
10.1007/S10048-008-0125-5
P577
2008-03-19T00:00:00Z