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