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Article

The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.

Human molecular genetics - 1 Jul 1995

Schloesser M, Hofferbert S, Bartz U, Lutze G, Lämmle B, Engel W

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8528215
DOI: 10.1093/hmg/4.7.1235

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The novel acceptor splice site mutation 11396(G-->A) in the factor XII gene causes a truncated transcript in cross-reacting material negative patients.PMID 8528215Read ↗

Mutations in the human factor XII gene.Semantic proximity Read ↗

New splicing mutations in the human factor XIIIA gene, each producing multiple mutant transcripts of varying abundance.Semantic proximity Read ↗

Molecular basis of inherited factor XIII deficiency: identification of multiple mutations provides insights into protein function.Semantic proximity Read ↗

Characterisation of six novel A-subunit mutations leading to congenital factor XIII deficiency and molecular analysis of the first diagnosed patient with this rare bleeding disorder.Semantic proximity Read ↗

Factor XII Tenri, a novel cross-reacting material negative factor XII deficiency, occurs through a proteasome-mediated degradation.Semantic proximity Read ↗

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.Semantic proximity Read ↗

Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levelsSemantic proximity Read ↗

Novel mutations in congenital factor XII deficiency.Semantic proximity Read ↗

Fibrinogen Milano XIII (Aalpha 19 Arg-->Gly): a dysfunctional variant with an amino acid substitution in the N-terminal polymerization site.Semantic proximity Read ↗

Abnormal immunophenotyping results in two clinically healthy factor XIII deficient patients.Semantic proximity Read ↗

A dysfunctional factor X (factor X San Giovanni Rotondo) present at homozygous and double heterozygous level: identification of a novel microdeletion (delC556) and missense mutation (Lys(408)-->Asn) in the factor X gene. A study of an Italian family.Semantic proximity Read ↗

Mutations in coagulation factor XIII A gene in eight unrelated Indians. Five novel mutations identified by a novel PCR-CSGE approach.Semantic proximity Read ↗

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