Back to Search
Start Over
A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G-->T] detected by a PCR-based diagnostic test.
- Source :
-
Human mutation [Hum Mutat] 1995; Vol. 5 (2), pp. 173-4. - Publication Year :
- 1995
- Subjects :
- Alternative Splicing
Base Sequence
DNA genetics
Diagnostic Tests, Routine
Ethnicity genetics
Female
France
Guanine
Hexosaminidase A
Humans
Ireland
Jews genetics
Leukocytes enzymology
Leukocytes pathology
Male
Molecular Sequence Data
Pedigree
Tay-Sachs Disease ethnology
Tay-Sachs Disease genetics
Thymine
beta-N-Acetylhexosaminidases blood
Introns
Point Mutation
Polymerase Chain Reaction methods
Tay-Sachs Disease diagnosis
beta-N-Acetylhexosaminidases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1059-7794
- Volume :
- 5
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 7749415
- Full Text :
- https://doi.org/10.1002/humu.1380050211