Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders. [electronic resource]
- Human mutation 1999
- 487-96 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1059-7794
10.1002/(SICI)1098-1004(1999)13:6<487::AID-HUMU9>3.0.CO;2-T doi
ATPases Associated with Diverse Cellular Activities Adenosine Triphosphatases--biosynthesis Base Sequence Exons Fibroblasts Fluorescent Antibody Technique Gene Expression Regulation Gene Library Humans Introns Models, Genetic Molecular Sequence Data Mutagenesis, Site-Directed Mutation Mutation, Missense Peroxisomal Disorders--genetics Transfection