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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.