Spinal muscular atrophy.
Scheffer
Hans
H
Department of Human Genetics, University Medical Centre Nijmegen, The Netherlands.
D005260:Female; D017353:Gene Deletion; D005808:Genes, Recessive; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis