The catalytic moiety of the glucose-6-phosphatase system: the ge

Details The catalytic moiety of the glucose-6-phosphatase system: the ge The catalytic moiety of the glucose-6-phosphatase system: the ge

1993-09-10

1995-10-24

Wax, Robert A.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435196, 4353201, 4352523, 4352401, 435810, 536 232, 536 2431, 536 243, C12N 1511, C12N 1555, C12Q 142, C12Q 168

Patent

active

054609429

ABSTRACT:
This invention relates to nucleic acid sequences and methods useful for producing recombinant glucose-6-phosphate (G-6-Pase). In addition, the invention relates to specific mutations in the gene encoding human G-6-Pase and methods for detecting the mutations and thus diagnosing the genetic disease that causes glycogen storage disease type 1A.

REFERENCES:
Kosel et al (1993) Eur. J. Pediat. 152 Suppl. 1 522-525.
Witke et al (1993) Genomics 16 751-754.
Dyer et al (1993) Biochem J. 293:51-64.

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