Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype.

Gärtner, J

Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype. [electronic resource] - Journal of inherited metabolic disease May 1999 - 311-3 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0141-8955

10.1023/a:1005599903632 doi


ATPases Associated with Diverse Cellular Activities
Aspartic Acid--genetics
Child
Glycine--genetics
Humans
Infant
Membrane Proteins--genetics
Microbodies
Mutation
Peroxisomal Disorders--genetics
Phenotype
Zellweger Syndrome--genetics