A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.
about
P1343
Structure of the GM2A gene: identification of an exon 2 nonsense mutation and a naturally occurring transcript with an in-frame deletion of exon 2Complete localization of disulfide bonds in GM2 activator proteinMolecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variantGM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosisCloning and sequence analysis of a cDNA clone coding for the mouse GM2 activator proteinLigand extraction properties of the GM2 activator protein and its interactions with lipid vesiclesGM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings.The Val192Leu mutation in the alpha-subunit of beta-hexosaminidase A is not associated with the B1-variant form of Tay-Sachs diseaseMutation in GM2A Leads to a Progressive Chorea-dementia Syndrome.A single site in human beta-hexosaminidase A binds both 6-sulfate-groups on hexosamines and the sialic acid moiety of GM2 ganglioside.
P2860
Q24540284-ABDA5AF5-3BF3-4036-8C9F-F52AECFD8DC7Q24673079-CF7AEC64-67D3-4E19-A76E-CE4A2DFA5542Q24675722-A9E39C26-0DBD-47FF-9499-1545FBAEBC8CQ31113934-A32AEBAB-BB5B-4726-846A-A013605D42EFQ34022994-5C3AEA2B-E664-4FE5-85DC-D47FC964CCAFQ36696773-1B386F32-15C1-4CEB-9C5D-DE7C88C6E3E1Q37263434-740CD093-3843-4112-B954-91BA217B3029Q37329193-0EB6F819-E573-4219-9431-D96BBBF69748Q38356213-A9B1AAFC-84A8-4680-92FB-96FB3D27C7A5Q41590799-0EECE3D0-443C-4495-823E-153D58206DADQ41945825-362ABE75-0A76-4C29-B544-0EC171C918CC
P2860
A Cys138-to-Arg substitution in the GM2 activator protein is associated with the AB variant form of GM2 gangliosidosis.
description
1992 nî lūn-bûn
@nan
1992 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
A Cys138-to-Arg substitution i ...... nt form of GM2 gangliosidosis.
@ast
A Cys138-to-Arg substitution i ...... nt form of GM2 gangliosidosis.
@en
type
label
A Cys138-to-Arg substitution i ...... nt form of GM2 gangliosidosis.
@ast
A Cys138-to-Arg substitution i ...... nt form of GM2 gangliosidosis.
@en
prefLabel
A Cys138-to-Arg substitution i ...... nt form of GM2 gangliosidosis.
@ast
A Cys138-to-Arg substitution i ...... nt form of GM2 gangliosidosis.
@en
P2093
P2860
P1476
A Cys138-to-Arg substitution i ...... ant form of GM2 gangliosidosis
@en
P2093
P2860
P304
P407
P577
1992-05-01T00:00:00Z