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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: Pia Gallano, Adriana Lasa, Jaume Colomer, Montserrat Baiget
المصدر: Europe PubMed Central
مصطلحات موضوعية: musculoskeletal diseases, Male, congenital, hereditary, and neonatal diseases and abnormalities, Duchenne muscular dystrophy, Nonsense mutation, Molecular Sequence Data, Biology, Muscular Dystrophies, Frameshift mutation, Dystrophin, Exon, Genetics, medicine, Humans, Point Mutation, Child, Genetics (clinical), Splice site mutation, Base Sequence, Point mutation, Adenine, Exons, medicine.disease, Stop codon, Mutagenesis, Insertional, Protein Biosynthesis, Mutation (genetic algorithm)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55f65f09f1687eec45824bbc1e127214Test
http://europepmc.org/abstract/med/8556818Test