High frequency of missense mutations in glycogen storage disease type VI
about
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.Chromosomal instability in rodents caused by pollution from Baikonur cosmodrome.Initial Molecular-Level Response to Artificial Selection for Increased Aerobic Metabolism Occurs Primarily through Changes in Gene Expression.Glycogen storage diseases: Diagnosis, treatment and outcome
P2860
Q35823703-A2643384-DFBA-473F-854D-3A2CC34077D3Q37329261-DF8419AA-90F0-4B07-81A7-A2022D6A8E96Q38614203-BF2493E7-461E-4E43-A391-69EC507AE244Q38913886-EEFC5F3D-E9FD-4ADD-B07C-3CA8B373EC4DQ47837222-81D52862-E818-4BFA-B874-5DE92E1C4AAAQ51002018-4AE72199-723E-4327-9CC6-85ADFB5D0AAAQ55931572-30B5D931-E55D-4F1E-BF52-9E4EA156DDA0
P2860
High frequency of missense mutations in glycogen storage disease type VI
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
High frequency of missense mutations in glycogen storage disease type VI
@ast
High frequency of missense mutations in glycogen storage disease type VI
@en
High frequency of missense mutations in glycogen storage disease type VI
@en-gb
High frequency of missense mutations in glycogen storage disease type VI
@nl
type
label
High frequency of missense mutations in glycogen storage disease type VI
@ast
High frequency of missense mutations in glycogen storage disease type VI
@en
High frequency of missense mutations in glycogen storage disease type VI
@en-gb
High frequency of missense mutations in glycogen storage disease type VI
@nl
prefLabel
High frequency of missense mutations in glycogen storage disease type VI
@ast
High frequency of missense mutations in glycogen storage disease type VI
@en
High frequency of missense mutations in glycogen storage disease type VI
@en-gb
High frequency of missense mutations in glycogen storage disease type VI
@nl
P2093
P1476
High frequency of missense mutations in glycogen storage disease type VI
@en
P2093
M J Sharrard
M P Champion
M S Tanner
N J Beauchamp
P Heinz-Erian
P2888
P304
P356
10.1007/S10545-007-0499-9
P407
P50
P577
2007-10-01T00:00:00Z
P6179
1052421649