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المؤلفون: Jaume Colomer, Yesim Parman, Rebecca Gooding, Dora Angelicheva, R. H. M. King, Jaume Bertranpetit, Luba Kalaydjieva, David Chandler, L. Marns
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Male, Neuromuscular disease, Genetic Linkage, Molecular Sequence Data, Population, Biology, Arginine, Electronic Letter, Genetic linkage, SH3TC2, Genetics, medicine, Humans, Child, education, Genetics (clinical), Family Health, education.field_of_study, Base Sequence, Models, Genetic, Haplotype, Intracellular Signaling Peptides and Proteins, Peripheral Nervous System Diseases, Proteins, medicine.disease, Founder Effect, Pedigree, Phenotype, Peripheral neuropathy, Spain, Mutation, Mutation (genetic algorithm), Female, Founder effect
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b054dc2c1001b826acfb1650295f9eTest
https://doi.org/10.1136/jmg.2005.034132Test -
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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