1.
Chinese Journal of Medical Genetics
;
(6): 39-42, 2022.
Artículo
en Chino
| WPRIM
| ID: wpr-928357
RESUMEN
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.
Asunto(s)
Niño , Femenino , Humanos , Recién Nacido , Errores Innatos del Metabolismo de los Aminoácidos/genética , Encefalopatías Metabólicas/genética , Glutaril-CoA Deshidrogenasa/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación
2.
SQUMJ-Sultan Qaboos University Medical Journal. 2015; 15 (4): 508-509
en Inglés
| IMEMR
| ID: emr-173892
3.
Indian Pediatr
;
1986 Jan; 23(1): 64-7
Artículo
en Inglés
| IMSEAR
| ID: sea-14262