المؤلفون: Richard Imrich, Shruthi K Bharadwaj, Hana Ayoob, Nicolas Sireau, Birgitta Olsson, G. Biolcati, Tom L. Blundell, Lakshminarayan R. Ranganath, Rangan Srinivasaraghavan, Anthony K Hall, Andrea Zatkova, Oliver Timmis, Kim Hanh Le Quan Sang, Fiammetta Sorge, Ludevit Kadasi, Charles Marques Lourenço, Caterina Aurizi, Mohammed Alsbou, Douglas E. V. Pires, Ronen Spiegel, Jan Radvanszky, Martina Nemethova, Kanakasabapathi Ramadevi, Annalisa Santucci, Robert Aquaron, Lia Milucci, Jozef Rovensky, Alessandro Mannoni, Berardino Porfirio, Silvia Sestini, Federica Genovese, David B. Ascher, James A. Gallagher, Christa van Kan

المصدر: European journal of human genetics : EJHG. 24(1)

مصطلحات موضوعية: 0301 basic medicine, Male, Models, Molecular, Genetics (clinical), Genetics, Nitisinone, Molecular Sequence Data, Mutation, Missense, Gene Expression, Biology, medicine.disease_cause, Alkaptonuria, Polymorphism, Single Nucleotide, Bone and Bones, Protein Structure, Secondary, Article, 03 medical and health sciences, Exon, Genetic Heterogeneity, Polymorphism (computer science), Catalytic Domain, Databases, Genetic, medicine, Missense mutation, Humans, Gene, Mutation, Homogentisate 1,2-Dioxygenase, Base Sequence, Genetic heterogeneity, Exons, Sequence Analysis, DNA, medicine.disease, Introns, Pedigree, Bone Diseases, Metabolic, 030104 developmental biology, Phenotype, Italy, Female, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7059e86f4e9c2904f6be81afbf73d6b1
https://pubmed.ncbi.nlm.nih.gov/25804398