Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation
about
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhoodA common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple heSpectrin tetramer formation is not required for viable development in DrosophilaLow expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.Two alpha subunit donor splice site mutations cause human trifunctional protein deficiencyRecurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.Allele-specific transcript isoforms in human.
P2860
Q24303615-6AB932BB-998E-417C-A614-68740F1B7779Q24564889-7BAA90AE-C179-473E-85EB-DF21411812A6Q27314007-9FD892BF-E5D6-4C61-BE3E-2E99A797F1F4Q33899236-A6B4D024-C2CB-47C7-B4C6-AA4C58F2F8CAQ34216105-247893FF-9DA4-4083-ABD4-7E49EEF9AFB9Q35553297-2104A0EF-E739-4B66-A5A0-3989843F1109Q45140161-72ABFD44-EF71-4484-91FF-96CAFFD0072B
P2860
Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation
description
1991 nî lūn-bûn
@nan
1991 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@ast
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@en
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@nl
type
label
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@ast
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@en
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@nl
prefLabel
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@ast
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@en
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@nl
P2093
P2860
P356
P1476
Spectrin Rouen (beta 220-218), ...... due to a splice site mutation
@en
P2093
B G Forget
M C Lecomte
P G Gallagher
P2860
P356
10.1172/JCI115307
P407
P577
1991-07-01T00:00:00Z