Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.

Kanoun, Houda

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations. [electronic resource] - BMC nephrology Oct 2017 - 303 p. digital

Publication Type: Journal Article

1471-2369

10.1186/s12882-017-0719-y doi


Adult
Amino Acid Sequence
Child
Child, Preschool
Computer Simulation
Female
Genetic Carrier Screening--methods
Humans
Hyperoxaluria, Primary--diagnosis
Male
Mutation--genetics
Pedigree
Protein Structure, Secondary
Sequence Analysis, DNA--methods
Transaminases--chemistry