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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: Dušan Butinar, Luciano Merlini, Jon Andoni Urtizberea, Axinia Corches, Thomas Voit, David Gresham, Rebecca Gooding, Alexei Savov, P. K. Thomas, Martina Baethmann, Luba Kalaydjieva, Vania Nedkova, Jaume Colomer, Luchezar Karagyozov, Dora Angelicheva, Amelia Nikolova, Roos de Jonge, Brigitte Chabrol, Rosalind H.M. King, David Chandler, Karin Blechschmidt, Boryana Ishpekova, Danielle E. Dye, Peter Yanakiev, Ivailo Tournev, Bronya J.B. Keats, Lisa Heather, Frank Baas, Arnold Starr
المساهمون: Other departments
المصدر: Chandler, D; Angelicheva, D; Heather, L; Gooding, R; Gresham, D; Yanakiev, P; et al.(2000). Hereditary motor and sensory neuropathy-Lom (HMSNL): Refined genetic mapping in Romani (Gypsy) families from several European countries. Neuromuscular Disorders, 10(8), 584-591. doi: 10.1016/S0960-8966(00)00148-6. UC Irvine: Retrieved from: http://www.escholarship.org/uc/item/3dj3g474
Neuromuscular disorders, 10(8), 584-591. Elsevier Limitedمصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, DNA Mutational Analysis, Biology, Gene mapping, medicine, Humans, Child, Genetics (clinical), Genetics, Chromosome Mapping, Middle Aged, medicine.disease, Pedigree, Clinical neurology, Europe, Phenotype, Haplotypes, Neurology, Pediatrics, Perinatology and Child Health, Disease Progression, Demyelinating neuropathy, Microsatellite, Female, Neurology (clinical), Hereditary Sensory and Motor Neuropathy, Hereditary motor and sensory neuropathy
وصف الملف: application/pdf
