المؤلفون: Hytönen, Marjo K, Viitanen, Sanna, Hundi, Sruthi, Donner, Jonas, Lohi, Hannes, Kaukonen, Maria

المساهمون: Medicum, Veterinary Biosciences, Department of Medical and Clinical Genetics, Equine and Small Animal Medicine, Small Animal Hospital, Hannes Tapani Lohi / Principal Investigator, Helsinki One Health (HOH), Veterinary Genetics

مصطلحات موضوعية: F8, Canine genetics, factor VIII, hemophilia A, Inherited bleeding disorder, 413 Veterinary science, 1184 Genetics, developmental biology, physiology

وصف الملف: application/pdf

العلاقة: Hytönen , M K , Viitanen , S , Hundi , S , Donner , J , Lohi , H & Kaukonen , M 2023 , ' A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs ' , Animal Genetics , vol. 54 , no. 5 , pp. 606-612 . https://doi.org/10.1111/age.13345Test; ORCID: /0000-0003-1976-5874/work/142856788; ORCID: /0000-0002-2146-4694/work/142859827; de893e7d-05e9-4dba-aec9-5a86e19884bf; http://hdl.handle.net/10138/565467Test; 001028219900001

الإتاحة: http://hdl.handle.net/10138/565467Test

المؤلفون: Kaukonen, Maria, Woods, Sean, Ahonen, Saija, Lemberg, Seppo, Hellman, Maarit, Hytönen, Marjo K, Permi, Perttu, Glaser, Tom, Lohi, Hannes

المصدر: Cell Reports. 23(9)

مصطلحات موضوعية: Biological Sciences, Pediatric, Congenital Structural Anomalies, Eye Disease and Disorders of Vision, Digestive Diseases, Genetics, Nutrition, 2.1 Biological and endogenous factors, Aetiology, Reproductive health and childbirth, Amino Acid Sequence, Animals, Base Pairing, Dogs, Eye Diseases, Female, Genes, Recessive, Genetic Loci, Genotype, HeLa Cells, Humans, Male, Maternal Inheritance, Microphthalmos, Pedigree, Phenotype, Prealbumin, Protein Folding, Retinol-Binding Proteins, Plasma, Sequence Deletion, Vitamin A, Hela Cells, RBP4, canine genetics, congenital eye defect, genome-wide association study, maternal inheritance, microphthalmia, nuclear magnetic resonance, vitamin A, western blotting, whole genome sequencing, Biochemistry and Cell Biology, Medical Physiology, Biological sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5rd6q428Test

المؤلفون: Hytönen, Marjo K., Viitanen, Sanna, Hundi, Sruthi, Donner, Jonas, Lohi, Hannes, Kaukonen, Maria

المصدر: Animal Genetics; Oct2023, Vol. 54 Issue 5, p606-612, 7p

مصطلحات موضوعية: LABRADOR retriever, HEMOPHILIA, FRAMESHIFT mutation, BLOOD coagulation factor VIII, BLOOD coagulation factors, BLOOD coagulation disorders