Aniridia is an autosomal dominant panocular disorder, characterized by hypoplasia of the iris. It is caused by mutations in the PAX6 gene. This gene encodes a 422-amino acid transcription factor. This protein includes paired and homeo domains, which bind DNA and a proline-serine and threonine-rich P
Identification of a novel mutation C144F in the notch3 gene in an Australian CADASIL pedigree
β Scribed by Rachel Grigg; Rod Lea; A.A. Sullivan; Robert Curtain; John MacMillian; Lyn Griffiths
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 13 KB
- Volume
- 16
- Category
- Article
- ISSN
- 1059-7794
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Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII. Causative mutations are heterogeneous in nature and are distributed throughout the FVIII gene. With the exception of mutations that result in prematurely truncated protein, it has p
## Communicated by Ulf Landegren Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated wit