Alkaptonuria (AKU) is a rare genetic disorder ... information on the functional and phenotypic consequences of novel mutations in the HGD gene responsible for AKU. This resource can aid in ...

AIMS: To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU ... Two homozygous missense mutations, L25P and M368V, were ...