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المؤلفون: Alexei Savov, Albena Jordanova, Vanya Nedkova, Lidia Aneva, Peter Yanakiev, Arseni Markov, Luba Kalaydjieva, Joachim Hallmayer, Ivo Kremensky, Nils U. Bosshard, Ivailo Tournev, Suna Onengut, Brigitta Radeva, Anna Pérez-Lezaun, Dora Angelicheva, R Gitzelmann, Danielle E. Dye
المصدر: The American Journal of Human Genetics. 65:1299-1307
مصطلحات موضوعية: Galactosemias, Male, Roma, Adolescent, Molecular Sequence Data, Population, Locus (genetics), Biology, Roma Gypsies, Polymerase Chain Reaction, Protein Structure, Secondary, Galactokinase, Neonatal Screening, Galactokinase deficiency, Gene mapping, Genetics, medicine, Humans, Genetics(clinical), Amino Acid Sequence, Genetic Testing, Bulgaria, education, Genetics (clinical), Mass screening, DNA Primers, education.field_of_study, Romania, Founder population, Haplotype, Infant, Newborn, Articles, Physical Chromosome Mapping, medicine.disease, Pedigree, Galactosemia, cataracts, Mutation, GK1 gene, Female, Lod Score, Chromosomes, Human, Pair 17, Founder effect
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المؤلفون: Ivailo Tournev, R. H. M. King, Stephen Milanov, Nevena Popova, Zdravko Kamenov, Radoslav Petkov, Ognian Kamenov, Maria Uzunova, Alexander Schmarov, Galina Dimitrova, Julia Petrova, Margarita Raicheva-Terzieva, Olia Radeva, Georgi Kolarov, Boryana Ishpekova, Velina Guergueltcheva, Kiril Romanski, Yanko Petkov, Lidia Aneva, Luba Kalaydjieva, P. K. Thomas, Maria Katzarova, Bryan Youl
المصدر: Annals of Neurology. 45:742-750
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pathology, Nerve biopsy, medicine.diagnostic_test, Craniofacial abnormality, business.industry, Marinesco–Sjögren syndrome, Chorea, Neurological disorder, medicine.disease, Short stature, Peripheral neuropathy, Neurology, medicine, Congenital cataracts, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::04e659f8155c07bd8f2f70b53b3cb948
https://doi.org/10.1002/1531-8249(199906)45:6<742::aid-ana8>3.0.co;2-n