Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.
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Genetic analysis of haemophilia A in BulgariaHaemophilias: advances towards genetic engineering replacement therapy.Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa.Severe Hemophilia A in a Male Old English Sheep Dog with a C→T Transition that Created a Premature Stop Codon in Factor VIII.A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins.Clinical correlates among 49 families with hemophilia A and factor VIII gene inversions.Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype.
P2860
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P2860
Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection.
description
1992 nî lūn-bûn
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1992年の論文
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1992年学术文章
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1992年学术文章
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name
Screening for nonsense mutatio ...... pid, direct carrier detection.
@en
Screening for nonsense mutatio ...... pid, direct carrier detection.
@nl
type
label
Screening for nonsense mutatio ...... pid, direct carrier detection.
@en
Screening for nonsense mutatio ...... pid, direct carrier detection.
@nl
prefLabel
Screening for nonsense mutatio ...... pid, direct carrier detection.
@en
Screening for nonsense mutatio ...... pid, direct carrier detection.
@nl
P356
P1433
P1476
Screening for nonsense mutatio ...... pid, direct carrier detection.
@en
P2093
A P Reiner
A R Thompson
P2888
P356
10.1007/BF00207049
P577
1992-04-01T00:00:00Z