- Tytuł:
-
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous
sclerosis complex in a Korean family. - Autorzy:
- Źródło:
- Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2330. Date of Electronic Publication: 2024 Jan 24.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Tumor Suppressor Proteins*/genetics
TuberousSclerosis */genetics
TuberousSclerosis */pathology
Humans ; TuberousSclerosis Complex 1 Protein/genetics ; TuberousSclerosis Complex 2 Protein/genetics ; Mutation ; Chromosomes, Human, Pair 9 ; Republic of Korea
Czasopismo naukowe