A novel splicing defect (IVS6+1G>T) in a patient with pseudovitamin D deficiency rickets
β Scribed by Porcu, L.; Meloni, A.; Casula, L.; Asunis, I.; Marini, M. G.; Cao, A.; Moi, P.
- Book ID
- 125336028
- Publisher
- Springer-Verlag
- Year
- 2002
- Tongue
- English
- Weight
- 766 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0391-4097
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Hereditary tyrosinemia type I (HTI) is an autosomal recessive disease characterized by a deficiency in fumarylacetoacetate hydrolase (FAH) activity. In this work, the FAH genotype was established in a group of 29 HTI patients, most of them from the Mediterranean area. We identified seven novel mutat
The enzyme 6-Pyruvoyl-tetrahydropterin synthase (PTS) deficiency is the major cause of BH 4 -deficient HPA. The frequency of BH 4 -deficient HPA was estimated to be around 30% among Chinese HPA population in Taiwan, which is much higher than that in Caucasian population (1.5-2% of HPA). Approximatel
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