The ‘royal disease’ mutation in a Spanish patient (original) (raw)
DNA variation in a 13-Mb region including the F9 gene: inferring the genealogical history and causal role of a hemophilia B mutation (IVS 5+13 AG)
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Journal of Thrombosis and Haemostasis, 2003
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Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches
Peter George
Journal of Thrombosis and Haemostasis, 2010
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A homozygous female hemophilia A
Kanjaksha Ghosh
Indian Journal of Human Genetics, 2012
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DNA polymorphism related to the idiopathic hemochromatosis gene: evidence in a recombinant family
Véronique David
Human Genetics, 1986
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An incest case with three biological brothers as alleged fathers: Even 22 autosomal STR loci analysis would not suffice without the mother
Cemal Gurkan
Medicine, science, and the law, 2015
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A haemophilia A and B molecular genetic diagnostic programme in Hungary: a highly informative and cost-effective strategy
András Bors
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Usual and unusual mutations in a cohort of Belgian patients with hemophilia B
Catherine Lambert
Thrombosis research, 2017
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Genetic counselling in haemophilia by discriminant analysis 1975-1980
howard reisner
Journal of Medical Genetics, 1982
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Mutation cases in the paternity tests using 15 autosomal STR markers
Novi Wulandari, Nurmammad Mustafayev
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Genetic analysis for carrier diagnosis in hemophilia A and B in the Mexican population: 25 years of experience
Irving Navarro
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2020
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Analysis of five polymorphic DNA markers for indirect genetic diagnosis of haemophilia A in the Brazilian population
Yara Costa Netto Muniz
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Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype
Stanley M Diamond
Human Mutation, 1997
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Genetic diagnosis of haemophilia and other inherited bleeding disorders
Rosanna Asselta
Haemophilia, 2006
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Allele frequencies and molecular diagnosis in haemophilia A and B patients from russia and from some Asian Republics of the former U.S.S.R
Vadim Surin
Prenatal Diagnosis, 1994
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Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects
Miguel Pinto, Carlos de Brasi
Haematologica, 2007
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Puzzling outcome of the nationwide genetic survey of severe/moderate female haemophilia B in Poland
Teresa Iwaniec
Haemophilia, 2019
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Genetica Integradora 2
Mikel Rodríguez
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Prenatal diagnosis in hemophilia A using factor VIII gene polymorphism—Indian experience
Madhumita Roy Chowdhury
Annals of Hematology, 2003
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Mutations causing Hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversion, and deletions in a human gene
Cynthia Bottema
The American Journal of Human Genetics
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A past mutation at Isoleucine 397 is now a common cause of moderate/mild haemophilia B
Cynthia Bottema
British Journal of Haematology, 1990
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The use of DNA markers for carrier detection and prenatal diagnosis of haemophilia A in Egyptian families
Amal Salem
Haemophilia, 2008
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Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry
Serena Vatta, Elena Bevilacqua
European Journal of Human Genetics, 2001
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