title: [Genetic confirmation of myoadenylate deaminase deficiency].
authors.affiliation: Hospital Universitario Ramon y Cajal, 28034 Madrid, Espana.
authors.forename: Virginia
authors.initials: V
authors.lastname: Navarro-Abia
authors.forename: Juan Manuel
authors.initials: JM
authors.lastname: Aparicio-Meix
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency* / Q000235:genetics; D019943:Amino Acid Substitution; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D010808:Physical Examination; D017354:Point Mutation; D020033:Protein Isoforms / Q000172:deficiency / Q000235:genetics; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*
chemical_list: D020033:Protein Isoforms; D000659:AMP Deaminase; C514117:AMPD1 protein, human