Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency.

Costa, C

Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. [electronic resource] - Molecular genetics and metabolism Jan 2003 - 68-73 p. digital

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

1096-7192

10.1016/s1096-7192(02)00205-6 doi


Amniotic Fluid--cytology
Carnitine Acyltransferases--deficiency
Cell Line
DNA--chemistry
DNA Mutational Analysis
Fatty Acids--metabolism
Female
Humans
Mutation
Oxidation-Reduction
Prenatal Diagnosis--methods