title: Analysis of RPS19 in patients with cartilage-hair hypoplasia and severe anemia: preliminary results.
authors.forename: Marc S
authors.initials: MS
authors.lastname: Williams
authors.forename: Pia
authors.initials: P
authors.lastname: Hermanns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000740:Anemia / Q000473:pathology*; D002357:Cartilage Diseases / Q000473:pathology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000473:pathology*; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D012269:Ribosomal Proteins; C040343:ribosomal protein S19; D004247:DNA