Pages that link to "Q28117400"

The following pages link to Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A (Q28117400):

Displaying 50 items.

• Coagulation factor VIII (Q410137) (← links)
• Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes (Q21145278) (← links)
• Human genome sequencing in health and disease (Q22065433) (← links)
• Structural variation in the human genome (Q22122017) (← links)
• DPY19L2 deletion as a major cause of globozoospermia (Q24296485) (← links)
• Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism (Q24310558) (← links)
• Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome (Q24336457) (← links)
• Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis. (Q24539086) (← links)
• Gene conversion and evolution of Xq28 duplicons involved in recurring inversions causing severe hemophilia A (Q24557421) (← links)
• Gene conversion homogenizes the CMT1A paralogous repeats (Q24797658) (← links)
• Genetic analysis of haemophilia A in Bulgaria (Q24805057) (← links)
• F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis (Q26827191) (← links)
• Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns (Q26859057) (← links)
• The Canadian "National Program for hemophilia mutation testing" database: a ten-year review (Q27013966) (← links)
• Characterization of the Gene (VBP1) and Transcript for the von Hippel–Lindau Binding Protein and Isolation of the Highly Conserved Murine Homologue (Q28252043) (← links)
• Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile (Q28660473) (← links)
• Identification of missense mutations in exon 16 of factor VIII gene in mild and moderate cases with hemophilia A. (Q30389035) (← links)
• Molecular diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations (Q30403462) (← links)
• Haemophilia management: time to get personal? (Q30403530) (← links)
• High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders (Q30502821) (← links)
• The effect of genomic inversions on estimation of population genetic parameters from SNP data (Q30577440) (← links)
• Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data (Q30647406) (← links)
• The Chapel Hill hemophilia A dog colony exhibits a factor VIII gene inversion (Q30745198) (← links)
• Evidence for large inversion polymorphisms in the human genome from HapMap data (Q31087752) (← links)
• The Bleeding Assessment Tool and laboratory data in the characterisation of a female with inherited haemophilia A. (Q31145095) (← links)
• Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM (Q33345045) (← links)
• Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism (Q33518545) (← links)
• Prenatal diagnosis of haemophilia (Q33601363) (← links)
• From caveman companion to medical innovator: genomic insights into the origin and evolution of domestic dogs (Q33646440) (← links)
• Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families (Q33676407) (← links)
• Gene therapy for the hemophilias (Q33723486) (← links)
• Identification of FVIII gene mutations in patients with hemophilia A using new combinatorial sequencing by hybridization (Q33735836) (← links)
• Inversion variants in the human genome: role in disease and genome architecture (Q33762256) (← links)
• Molecular mechanisms for CMT1A duplication and HNPP deletion (Q33787286) (← links)
• Targeted inversion and reversion of the blood coagulation factor 8 gene in human iPS cells using TALENs (Q33834954) (← links)
• Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia (Q33835317) (← links)
• The functional impact of structural variation in humans (Q33847296) (← links)
• Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations (Q33891976) (← links)
• Genome architecture catalyzes nonrecurrent chromosomal rearrangements (Q33904646) (← links)
• Haemophilia A and haemophilia B: molecular insights (Q33918888) (← links)
• A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome. (Q33930829) (← links)
• Somatic mosaicism in hemophilia A: a fairly common event. (Q34020470) (← links)
• BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension (Q34043809) (← links)
• Ionizing radiation and genetic risks. XII. The concept of "potential recoverability correction factor" (PRCF) and its use for predicting the risk of radiation-inducible genetic disease in human live births (Q34056666) (← links)
• A W-linked palindrome and gene conversion in New World sparrows and blackbirds (Q34070337) (← links)
• Recombinant canine B-domain-deleted FVIII exhibits high specific activity and is safe in the canine hemophilia A model (Q34078730) (← links)
• Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. (Q34146295) (← links)
• Molecular etiology of factor VIII deficiency in hemophilia A. (Q34309231) (← links)
• Investigation of inversion polymorphisms in the human genome using principal components analysis (Q34341880) (← links)
• Segmental duplications: an 'expanding' role in genomic instability and disease (Q34389505) (← links)