Hemophilia A due to mutations that create new N-glycosylation sites.
about
The acquisition of novel N-glycosylation sites in conserved proteins during human evolutionHaemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Rampant purifying selection conserves positions with posttranslational modifications in human proteinsGains of glycosylation comprise an unexpectedly large group of pathogenic mutations.Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.Abnormal factor VIII Hiroshima: defect in crucial proteolytic cleavage by thrombin at Arg1689 detected by a novel ELISA.Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII.
P2860
Q28650549-6BDE1F3E-E0BE-4A94-9EB8-1517116B9B4CQ34868491-BE33D7EF-DF2C-4828-BB63-2E91C7FB048CQ35023102-5DABC80E-3A09-49BF-9C31-435A99FF1C41Q40415559-248DDC45-FC43-4512-A2E2-9A5AD23750AEQ41167453-C9B8AEBD-78B2-4037-9888-36E81D9CF9E0Q45855580-F88E0B75-1CC8-4BC2-816A-A9E1816910F7Q45871581-CB9872B3-948C-4CA0-A90F-AC5C4D88E83AQ45890208-FB82330E-7CAB-4A4C-8A1B-4B5B7F4CE475Q52378729-447A2409-8871-4C28-AAFC-8125A83D1792
P2860
Hemophilia A due to mutations that create new N-glycosylation sites.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on June 1992
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Hemophilia A due to mutations that create new N-glycosylation sites.
@en
Hemophilia A due to mutations that create new N-glycosylation sites.
@nl
type
label
Hemophilia A due to mutations that create new N-glycosylation sites.
@en
Hemophilia A due to mutations that create new N-glycosylation sites.
@nl
prefLabel
Hemophilia A due to mutations that create new N-glycosylation sites.
@en
Hemophilia A due to mutations that create new N-glycosylation sites.
@nl
P2093
P2860
P921
P356
P1476
Hemophilia A due to mutations that create new N-glycosylation sites.
@en
P2093
C K Kasper
H H Kazazian
S E Antonarakis
P2860
P304
P356
10.1073/PNAS.89.11.4933
P407
P577
1992-06-01T00:00:00Z