Novel human pathological mutations.
D018389:Codon, Nonsense; D016368:Frameshift Mutation; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics*
D018389:Codon, Nonsense; D011506:Proteins