MOLECULAR ANALYSIS OF CARNITINE PALMITOYL – TRANSFERASE DEFICIENCY
- 2 Anni 1991/1993
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Pubblicazioni Scientifiche
- 1993 NATURE GENETICS
IDENTIFICATION OF A COMMON MUTATION IN THE CARNITINE PALMITOYLTRANSFERASE II GENE IN FAMILIAL RECURRENT MYOGLOBINURIA PATIENTS
- 1992 PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AME
MOLECULAR CHARACTERIZATION OF INHERITED CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY
- 1993 HUMAN MOLECULAR GENETICS
2 NOVEL SEQUENCE POLYMORPHISMS OF THE HUMAN CARNITINE PALMITOYLTRANSFERASE-II (CPT1) GENE