[Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. Grupo AEGH/CIBERER].
Garcia Planells
Javier
J
Instituto de Medicina Genómica, Valencia, España.
Molano
Jesús
J
Borrego
Salud
S
D000483:Alleles; D019985:Benchmarking; D015139:Blotting, Southern / Q000379:methods; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D042241:Early Diagnosis; D005260:Female; D005568:Forms and Records Control; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats; D025202:Molecular Diagnostic Techniques / Q000592:standards* / Q000706:statistics & numerical data; D020967:Myotonic Disorders / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control; D009223:Myotonic Dystrophy / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control; D065636:Myotonin-Protein Kinase; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D019836:Preimplantation Diagnosis; D011296:Prenatal Diagnosis; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012985:Software Design
C433227:CNBP protein, human; C585517:DMPK protein, human; D016601:RNA-Binding Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases