An intron 1 splice mutation and a nonsense mutation (W23X) in CYP21 causing severe congenital adrenal hyperplasia
โ Scribed by Svetlana Lajic; A. Wedell
- Book ID
- 106136405
- Publisher
- Springer
- Year
- 1996
- Tongue
- English
- Weight
- 26 KB
- Volume
- 98
- Category
- Article
- ISSN
- 0340-6717
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๐ SIMILAR VOLUMES
Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating p
Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in