Mutation Details for c.579+5G>A
|
|
cDNA Name
|
c.579+5G>A
|
|
Exon or Intron
|
intron 5
|
|
Legacy Exon or Intron
|
intron 5
|
|
|
711+5G->A
|
|
Other Details
|
A new splicing mutation at the exon/intron 5 junction of the CFTR gene was identified. The mutation 711+5G->A could be detected by restriction enzyme analysis since it destroys a Rsa I restriction site. It was found in 6 out of 225 CF chromosomes so far analyzed.
|
|
Contributors
|
Gasparini P<
Bisceglia L,
Savoia A,
Zelante L
1993-05-18
|
|
Institute
|
Istituto di Ricovero e Cura a Carattere Scientifico
|
|
Phenotype Information
|
CFTR2
|
|
Reference
|
Bisceglia et al. 1994
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
