A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model

scientific article published on September 1, 1992

A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1136/JMG.29.9.602
P953full work available at URLhttps://europepmc.org/articles/PMC1016089
https://europepmc.org/articles/PMC1016089?pdf=render
P932PMC publication ID1016089
P698PubMed publication ID1404290
P5875ResearchGate publication ID21752005

P2093author name stringP. M. Green
F. Giannelli
D. R. Bentley
A. J. Montandon
S. Saad
P2860cites workNucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulationQ22254871
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)Q28646323
Molecular pathology of haemophilia BQ33562603
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutationsQ33582011
The gene structure of human anti-haemophilic factor IX.Q33939512
Disruption of a C/EBP binding site in the factor IX promoter is associated with haemophilia B.Q34328756
Treatment of haemophilia and related disorders in Britain and Northern Ireland during 1976-80: report on behalf of the directors of haemophilia centres in the United KingdomQ34991744
The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspotsQ35843460
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992Q35921123
A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanismQ35988428
Point mutations in the dystrophin geneQ36895838
Genetics and molecular biology of haemophilias A and BQ36905556
Direct detection of point mutations by mismatch analysis: application to haemophilia B.Q40449237
Origin of mutation in sporadic cases of haemophilia-BQ43751724
The putative factor IX gene promoter in hemophilia B LeydenQ45271074
Gene deletions in patients with haemophilia B and anti-factor IX antibodiesQ45864599
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in SwedenQ45880189
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII geneQ45880510
Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosomeQ45880604
Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneityQ45881281
Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).Q45883457
Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).Q45885747
Cause of the 'inhibitor' phenotype in the haemophiliasQ45886751
Haplotype analysis of identical factor IX mutants using PCRQ68178277
[Benign epithelial pulmonary tumors.]Q78560219
P433issue9
P407language of work or nameEnglishQ1860
P921main subjecthemophiliaQ134003
genetic counselingQ1124169
hemophilia BQ2562598
P304page(s)602-607
P577publication date1992-09-01
P1433published inJournal of Medical GeneticsQ14640281
P1476titleA new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model
P478volume29

Reverse relations

cites work (P2860)
Q45870493Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques
Q42167790Chemical cleavage of heteroduplex DNA to identify mutations
Q45873902Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX.
Q33572027Molecular genetic techniques and applications in ophthalmology
Q40519633The hemophilias.

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