Article
A nucleotide insertion and frameshift cause analbuminemia in an Italian family.
Proceedings of the National Academy of Sciences of the United States of America - 15 Mar 1994
Watkins S, Madison J, Galliano M, Minchiotti L, Putnam F W
Abstract excerpt
In analbuminemia, a very rare inherited syndrome, subjects produce little or no albumin (1/100th to 1/1000th normal), presumably because of a mutation in the albumin gene; yet, they have only moderate edema and few related symptoms owing to a compensatory increase in other plasma proteins. Because of the virtual absence of albumin the defect must be identified at the DNA level. In this study the mutation causing...
Topics
- Amino Acid Sequence
- Base Sequence
- Cloning, Molecular
- DNA
- DNA Transposable Elements
- Female
- Frameshift Mutation
- Homozygote
- Humans
- Italy
- Male