French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion.

The molecular basis of myotonic dystrophy (DM) has been characterised. All DM mutations characterised to date appear as an unstable elongation of a fragment containing a tandem repeat of a CTG motif, which can be visualised in both EcoRI and BamHI digests. It has been shown that the fragment is poly...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Lavedan, C, Hofmann-Radvanyi, H, Boileau, C, Bonaïti-Pellié, C, Savoy, D, Shelbourne, P, Duros, C, Rabes, J P, Dehaupas, I, Luce, S
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049595/
https://ncbi.nlm.nih.gov/pubmed/8151634
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky