Authors: VASCONCELOS O SIVAKUMAR K OUEZADO M NAGLE J MONZON M DUBNICK M DALAKAS MC GAJDUSEK DC GOLDFARB LG

Citation: O. Vasconcelos et al., A NONSENSE MUTATION IN THE HUMAN PHOSPHOFRUCTOKINASE MUSCLE-SUBUNIT GENE ASSOCIATES WITH EXPRESSION OF MESSENGER-RNA SPECIES RETAINING INTRON-10 IN 3 ASHKENAZI JEWISH PATIENTS WITH GLYCOGENOSIS TYPE-VII, American journal of human genetics, 57(4), 1995, pp. 1053-1053