scholarly article | Q13442814 |
P356 | DOI | 10.1136/JMG.29.9.602 |
P953 | full work available at URL | https://europepmc.org/articles/PMC1016089 |
https://europepmc.org/articles/PMC1016089?pdf=render | ||
P932 | PMC publication ID | 1016089 |
P698 | PubMed publication ID | 1404290 |
P5875 | ResearchGate publication ID | 21752005 |
P2093 | author name string | P. M. Green | |
F. Giannelli | |||
D. R. Bentley | |||
A. J. Montandon | |||
S. Saad | |||
P2860 | cites work | Nucleotide sequence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation | Q22254871 |
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B) | Q28646323 | ||
Molecular pathology of haemophilia B | Q33562603 | ||
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations | Q33582011 | ||
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 Kingdom | Q34991744 | ||
The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots | Q35843460 | ||
Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992 | Q35921123 | ||
A factor IX mutation, verified by direct genomic sequencing, causes haemophilia B by a novel mechanism | Q35988428 | ||
Point mutations in the dystrophin gene | Q36895838 | ||
Genetics and molecular biology of haemophilias A and B | Q36905556 | ||
Direct detection of point mutations by mismatch analysis: application to haemophilia B. | Q40449237 | ||
Origin of mutation in sporadic cases of haemophilia-B | Q43751724 | ||
The putative factor IX gene promoter in hemophilia B Leyden | Q45271074 | ||
Gene deletions in patients with haemophilia B and anti-factor IX antibodies | Q45864599 | ||
Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden | Q45880189 | ||
Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene | Q45880510 | ||
Moderate haemophilia B in a female carrier caused by preferential inactivation of the paternal X chromosome | Q45880604 | ||
Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity | Q45881281 | ||
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 haemophilias | Q45886751 | ||
Haplotype analysis of identical factor IX mutants using PCR | Q68178277 | ||
[Benign epithelial pulmonary tumors.] | Q78560219 | ||
P433 | issue | 9 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | hemophilia | Q134003 |
genetic counseling | Q1124169 | ||
hemophilia B | Q2562598 | ||
P304 | page(s) | 602-607 | |
P577 | publication date | 1992-09-01 | |
P1433 | published in | Journal of Medical Genetics | Q14640281 |
P1476 | title | A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model | |
P478 | volume | 29 |
Q45870493 | Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques |
Q42167790 | Chemical cleavage of heteroduplex DNA to identify mutations |
Q45873902 | Haemophilia B caused by a missense mutation in the prepeptide sequence of factor IX. |
Q33572027 | Molecular genetic techniques and applications in ophthalmology |
Q40519633 | The hemophilias. |
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