Details

Autor(en) / Beteiligte

• ROBINSON, D. O
• BUNYAN, D. J
• GABB, H. A
• TEMPLE, I. K
• YAU, S. C

Titel

A small intraexonic deletion within the dystrophin gene suggests a possible mechanism of mutagenesis

Ist Teil von

• Human genetics, 1997-05, Vol.99 (5), p.658-662

Ort / Verlag

Heidelberg: Springer

Erscheinungsjahr

1997

Quelle

MEDLINE

Beschreibungen/Notizen

• A case of Duchenne muscular dystrophy is described with an unusual mutation consisting of a 17-bp deletion within exon 47 of the dystrophin gene. The sequences on either side of the deletion have a high degree of intrastrand base complementarity. It is hypothesised that the mechanism generating the deletion may have been the formation of hairpin loop structure in a single strand of DNA followed by enzymatic degradation at unpaired regions within the loop.