The PAX6 mutation present in an individual with aniridia was determined and phenotypic features of immediate relatives carrying the same mutation investigated. Mutation analysis revealed a novel single base deletion 1410delC in the PAX6 gene in ten affected individuals. Clinical features ranged from
The occurrence of two unusual serum protein phenotypes in a single pedigree
β Scribed by H. Harris; S. D. Lawler; E. B. Robson; O. SMITHIES
- Book ID
- 115246790
- Publisher
- John Wiley and Sons
- Year
- 1959
- Tongue
- English
- Weight
- 601 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0003-4800
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Relatively conservative modifications of three proteins were carried out to alter their surface properties. The protein properties modified were hydrophobicity and charge. This was done by acylation of amino groups with anhydrides. For the hydrophobic modification experiments, two proteins (p-lactog