Assertion: alkaptonuria | /r/CreatedBy | defect
Facets:
value: in a gene
type: OTHER
Source sentences:
text: Alkaptonuria is caused by a defect, or mutation, in the HGD gene.
text: Alkaptonuria is a genetic disorder, caused by defect in a gene responsible for breakdown of certain parts of proteins.
text: Alkaptonuria is a genetic disorder, caused by defect in a gene responsible for breakdown of certain parts of proteins.
text: Alkaptonuria is a rare autosomal recessive inherited disorder caused by defects in the gene encoding an enzyme, homogentisic acid oxidase, involved in the catabolism of phenylalanine and tyrosine.