Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 deletions and 11 duplications could be precisely map...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Den Dunnen, J T, Grootscholten, P M, Bakker, E, Blonden, L A, Ginjaar, H B, Wapenaar, M C, van Paassen, H M, van Broeckhoven, C, Pearson, P L, van Ommen, G J
Médium: Artigo
Jazyk:Inglês
Vydáno: 1989
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683480/
https://ncbi.nlm.nih.gov/pubmed/2573997
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky