Peņa-Quintana, L <br/><br/>
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 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1399-0004 
<br/><br/><label>Standard No.: </label>10.1111/cge.13003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Age of Onset<br/>Alleles<br/>Child<br/>Child, Preschool<br/>Female<br/>Founder Effect<br/>Genetic Association Studies<br/>Genetic Loci<br/>Genotype<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>Polymorphism, Single Nucleotide<br/>Tyrosine Transaminase--genetics<br/>Tyrosinemias--diagnosis<br/>Young Adult