Identification of a novel exonic mutation at -13 from 5' splice site causing exon skipping in a girl with mitochondrial acetoacetyl-coenzyme A thiolase deficiency.
We identified a novel exonic mutation which causes exon skipping in the mitochondrial acetoacetyl-CoA thiolase (T2) gene from a girl with T2 deficiency (GK07). GK07 is a compound heterozygote; the maternal allele has a novel G to T transversion at position 1136 causing Gly379 to Val substitution (G3...
Gardado en:
| Publicado en: | J Clin Invest |
|---|---|
| Principais autores: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
American Society for Clinical Investigation
1994
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC294030/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7907600/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117052 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|