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Chinese Journal of Medical Genetics ; (6): 39-42, 2022.
Artigo em Chinês | WPRIM | ID: wpr-928357

RESUMO

OBJECTIVE@#To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).@*METHODS@#Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C, which was derived from her father and mother, respectively.@*CONCLUSION@#The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.


Assuntos
Criança , Feminino , Humanos , Recém-Nascido , Erros Inatos do Metabolismo dos Aminoácidos/genética , Encefalopatias Metabólicas/genética , Glutaril-CoA Desidrogenase/genética , Sequenciamento de Nucleotídeos em Larga Escala , Mutação
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