Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database

Bằng Zatkova, Andrea, Sedlackova, Tatiana, Radvansky, Jan, Polakova, Helena, Nemethova, Martina, Aquaron, Robert, Dursun, Ismail, Usher, Jeannette L., Kadasi, Ludevit
Được phát hành 2011

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations

Bằng Usher, Jeannette L., Ascher, David B., Pires, Douglas E. V., Milan, Anna M., Blundell, Tom L., Ranganath, Lakshminarayan R.
Xuất bản năm JIMD Rep (2015)