Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.

Peña-Quintana, L

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation. [electronic resource] - Clinical genetics Sep 2017 - 306-317 p. digital

Publication Type: Journal Article

1399-0004

10.1111/cge.13003 doi


Adolescent
Age of Onset
Alleles
Child
Child, Preschool
Female
Founder Effect
Genetic Association Studies
Genetic Loci
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Phenotype
Polymorphism, Single Nucleotide
Tyrosine Transaminase--genetics
Tyrosinemias--diagnosis
Young Adult