Phenotypic diversity of human diseases resulting from allelic series.
D000483:Alleles; D005816:Genetic Complementation Test; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics; D010641:Phenotype; D012730:Sex Chromosomes