TY  - GEN
AU  - Peña-Quintana,L
AU  - Scherer,G
AU  - Curbelo-Estévez,M L
AU  - Jiménez-Acosta,F
AU  - Hartmann,B
AU  - La Roche,F
AU  - Meavilla-Olivas,S
AU  - Pérez-Cerdá,C
AU  - García-Segarra,N
AU  - Giguère,Y
AU  - Huppke,P
AU  - Mitchell,G A
AU  - Mönch,E
AU  - Trump,D
AU  - Vianey-Saban,C
AU  - Trimble,E R
AU  - Vitoria-Miñana,I
AU  - Reyes-Suárez,D
AU  - Ramírez-Lorenzo,T
AU  - Tugores,A
TI  - Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation
SN  - 1399-0004
PY  - 2018///0430
KW  - Adolescent
KW  - Age of Onset
KW  - Alleles
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Founder Effect
KW  - Genetic Association Studies
KW  - Genetic Loci
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Polymorphism, Single Nucleotide
KW  - Tyrosine Transaminase
KW  - genetics
KW  - Tyrosinemias
KW  - diagnosis
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1111/cge.13003
ER  -