MOLECULAR ANALYSIS OF CARNITINE PALMITOYL – TRANSFERASE DEFICIENCY

Pubblicazioni Scientifiche

• HUMAN MOLECULAR GENETICS

  2 NOVEL SEQUENCE POLYMORPHISMS OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II (CPT1) GENE

• NATURE GENETICS

  IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  MOLECULAR CHARACTERIZATION OF INHERITED CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY