Pyruvate kinase deficiency: novel mutations and a better understanding of the genotype-to-phenotype correlation in Brazilian patients
AUTOR(ES)
Cançado, Rodolfo Delfini
FONTE
Hematol., Transfus. Cell Ther.
DATA DE PUBLICAÇÃO
2018-03
RESUMO
Documentos Relacionados
- Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience
- Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
- Novel mutations associated with pyruvate kinase deficiency in Brazil
- Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
- Inherited Interleukin-12 Deficiency: IL12B Genotype and Clinical Phenotype of 13 Patients from Six Kindreds