Pages that link to "Q33562603"

The following pages link to Molecular pathology of haemophilia B (Q33562603):

Displaying 50 items.

• Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency (Q24515023) (← links)
• Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease (Q24564000) (← links)
• A new strategy for the genetic counselling of diseases of marked mutational heterogeneity: haemophilia B as a model (Q33594403) (← links)
• Restriction fragment length polymorphisms associated with the factor VIII and factor IX genes in Polynesians (Q33596659) (← links)
• A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods (Q33596808) (← links)
• The expected equilibrium of the CpG dinucleotide in vertebrate genomes under a mutation model (Q33639307) (← links)
• Haemophilia A and haemophilia B: molecular insights (Q33918888) (← links)
• Characterization of recombinant human factor IX expressed in transgenic mice and in derived trans-immortalized hepatic cell lines (Q34077417) (← links)
• Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. (Q34146295) (← links)
• An RNA splice site mutation in the C1-inhibitor gene causes type I hereditary angio-oedema (Q34548201) (← links)
• Molecular analysis of the ovine cystic fibrosis transmembrane conductance regulator gene (Q34583768) (← links)
• Haemophilia B (sixth edition): a database of point mutations and short additions and deletions (Q34587135) (← links)
• Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994. (Q34868581) (← links)
• Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993 (Q34990494) (← links)
• Why does the human factor IX gene have a G + C content of 40%? (Q35196891) (← links)
• Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes (Q35197164) (← links)
• The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians (Q35198045) (← links)
• Detection of novel genetic markers by mismatch analysis (Q35238935) (← links)
• Extended tumour necrosis factor/HLA-DR haplotypes and asthma in an Australian population sample (Q35533324) (← links)
• The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test (Q35644562) (← links)
• Hemophilia B: molecular pathogenesis and mutation analysis. (Q35832802) (← links)
• The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots (Q35843460) (← links)
• Haemophilia B: database of point mutations and short additions and deletions (Q35850420) (← links)
• Haemophilia B: database of point mutations and short additions and deletions--second edition (Q35855463) (← links)
• Haemophilia B: database of point mutations and short additions and deletions--third edition, 1992 (Q35921123) (← links)
• The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system (Q36292380) (← links)
• Progress in the DNA diagnosis of hemophilias (Q36495426) (← links)
• The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B (Q36775668) (← links)
• Point mutations in the dystrophin gene (Q36895838) (← links)
• Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency). (Q37357403) (← links)
• Application of the polymerase chain reaction to the diagnosis of human genetic disease (Q37935121) (← links)
• The first EGF-like domain from human factor IX contains a high-affinity calcium binding site (Q38342074) (← links)
• Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides (Q38865127) (← links)
• Biological functions of fucose in mammals (Q39254939) (← links)
• The first EGF domain of coagulation factor IX attenuates cell adhesion and induces apoptosis (Q39809447) (← links)
• A null deficiency allele of alpha 1-antitrypsin, QOludwigshafen, with altered tertiary structure (Q40511861) (← links)
• The effect of replication errors on the mismatch analysis of PCR-amplified DNA. (Q40514307) (← links)
• Mutations at arginine residues in two Asian hemophilia B patients (Q40515769) (← links)
• Factor IXBasel: a Swiss family with severe haemophilia B having a point mutation in EGF type B domain (Q40531019) (← links)
• Sequence and characteristics of IS900, an insertion element identified in a human Crohn's disease isolate of Mycobacterium paratuberculosis (Q40539067) (← links)
• Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis (Q40540321) (← links)
• Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene (Q40584423) (← links)
• Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment (Q41182021) (← links)
• Beta-hexosaminidase splice site mutation has a high frequency among non-Jewish Tay-Sachs disease carriers from the British Isles (Q41642105) (← links)
• Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations (Q41648005) (← links)
• A cystic fibrosis patient who is homozygous for the G85E mutation has very mild disease (Q41674768) (← links)
• Specific detection of Mycobacterium paratuberculosis by DNA hybridisation with a fragment of the insertion element IS900 (Q43220690) (← links)
• T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. (Q43889536) (← links)
• The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene (Q45873877) (← links)
• Screening for mutations in the gene encoding factor IX (Q45879165) (← links)