Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
about
Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit geneCharacterization of cDNAs encoding human pyruvate dehydrogenase alpha subunitPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet againIdentification of a frameshift mutation responsible for the silent phenotype of human serum cholinesterase, Gly 117 (GGT----GGAG)Three genes for enzymes of the pyruvate dehydrogenase complex map to human chromosomes 3, 7, and X.Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha geneMutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patientsKetogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomesThe spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.Dried blood spot on filter paper as a source of mRNA.Metabolic etiologies in West syndrome.
P2860
Q24557561-737DE9DB-2E23-45B0-808C-7834FAB3B7AEQ24611106-E497A3AD-4DA3-49DB-A17A-E092E134DA4FQ24672891-4CC102BD-AD79-4A90-A2D6-3190FF859C5CQ24677160-8DCC301C-D2B1-4CB0-8508-8E4854D16283Q34018938-ABA2D036-583A-45FA-A4C4-BBC02680E44DQ35197117-712BFC05-9AA6-4B10-99B0-A668EF2028CCQ35198074-8DBD845D-32E1-4F24-AA28-E3D34753C7BAQ35643208-ECF91AA7-1874-4670-A941-32674AF1E89EQ37125579-854AEA3D-7F38-4585-A4E8-83849055B873Q37639869-538EA56D-8E11-4CE0-9564-DCBF00B3D7E8Q37730164-084164F3-C095-44AE-9732-71A5F79445BCQ40422037-C48A8C32-E4AB-4FE0-A5BE-B521AB4CFD0DQ55235450-1CD18674-851F-4924-BFEA-998ACA94A954
P2860
Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift
description
1989 nî lūn-bûn
@nan
1989 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի մարտին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Defective gene in lactic acido ...... ubunit caused by a frame shift
@ast
Defective gene in lactic acido ...... ubunit caused by a frame shift
@en
Defective gene in lactic acido ...... ubunit caused by a frame shift
@nl
type
label
Defective gene in lactic acido ...... ubunit caused by a frame shift
@ast
Defective gene in lactic acido ...... ubunit caused by a frame shift
@en
Defective gene in lactic acido ...... ubunit caused by a frame shift
@nl
prefLabel
Defective gene in lactic acido ...... ubunit caused by a frame shift
@ast
Defective gene in lactic acido ...... ubunit caused by a frame shift
@en
Defective gene in lactic acido ...... ubunit caused by a frame shift
@nl
P2093
P2860
P1476
Defective gene in lactic acido ...... ubunit caused by a frame shift
@en
P2093
P2860
P304
P407
P577
1989-03-01T00:00:00Z