Human inherited diseases {autosomal recessive disease} can have non-sex-chromosome homozygous mutant alleles. Carboxylase-enzyme deficiency requires biotin. Cystic fibrosis requires cystic-fibrosis transmembrane-conductance regulator (CFTR). Gout requires urate oxidase. Lesch-Nyhan syndrome requires hypoxanthine phosphoribosyltransferase (HPRT). Phenylketonuria requires phenylalanine hydroxylase. Neurofibromatosis requires NF1. Sickle-cell anemia requires beta-globin. Tay-Sacks disease requires hexosaminidase A. Beta-thalassemia requires beta-globin.
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Date Modified: 2022.0224