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1
المؤلفون: Encarna Guillén-Navarro, Rosalind H.M. King, Rebecca Gooding, Dora Angelicheva, Andrés Nascimento, Jaume Colomer, Luba Kalaydjieva, Yesim Parman, Joan Conill
المصدر: Neuromuscular Disorders. 16:449-453
مصطلحات موضوعية: Adult, Male, Roma, Adolescent, Genotype, Disease, Biology, Charcot-Marie-Tooth Disease, SH3TC2, Humans, Point Mutation, Age of Onset, First-degree relatives, Child, Genetics (clinical), Genetics, Point mutation, Homozygote, Infant, Newborn, Intracellular Signaling Peptides and Proteins, Infant, Proteins, Middle Aged, Founder Effect, Pedigree, Phenotype, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Age of onset, Polymorphism, Restriction Fragment Length, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cd75b4ec2d9b9ad305c0b48302b2c60Test
https://doi.org/10.1016/j.nmd.2006.05.005Test -
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المؤلفون: Marc Jeanpierre, María José Cubillas Rodríguez, Jean Kaplan, Jon Andoni Urtizberea, Montserrat Baiget, Carles de Diego, Pia Gallano, Adriana Lasa, F. Piccolo, Jaume Colomer
المصدر: European Journal of Human Genetics. 6:396-399
مصطلحات موضوعية: Male, Roma, Population, Mutation, Missense, Biology, Muscular Dystrophies, Consanguinity, Sarcoglycans, Genetics, medicine, Humans, Missense mutation, Muscular dystrophy, Allele, education, Genetics (clinical), education.field_of_study, Membrane Glycoproteins, Transition (genetics), Homozygote, Extremities, medicine.disease, Founder Effect, Pedigree, Cytoskeletal Proteins, Sarcoglycan, Genetics, Population, Phenotype, Mutation (genetic algorithm), Female, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba9d270b7af92e15650472d53139198Test
https://doi.org/10.1038/sj.ejhg.5200197Test