Structure of the GM2A Gene: Identification of an Exon 2 Nonsense Mutation and a Naturally Occurring Transcript with an In-Frame Deletion of Exon 2
โ Scribed by Biao Chen; Brigitte Rigat; Cynthia Curry; Don J. Mahuran
- Book ID
- 117852896
- Publisher
- American Society of Human Genetics
- Year
- 1999
- Tongue
- English
- Weight
- 394 KB
- Volume
- 65
- Category
- Article
- ISSN
- 0002-9297
- DOI
- 10.1086/302463
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
We report a GโA transition at nucleotide 431 of the proteolipid protein gene (PLP) results in a nonsense codon in a family with an unusual form of Pelizaeus-Merzbacher disease (PMD). The mutation, which creates a second AluI restriction site, results in a nonsense mutation in PLP. The clinical pictu
Autosomal dominant polycystic kidney disease (ADPKD) occurs mainly from mutations of polycystic kidney disease 1 (PKD1) gene. A novel mutation of the PKD1 gene due to a nucleotide substitution in splice-acceptor site of IVS13 (AG->TG) was identified by analyses of PKD1-cDNA and genomic DNA. The IVS1