Title : Prenatal diagnosis of glycogen storage disease type 1a by direct mutation detection.

Pub. Date : 1996 Feb

PMID : 8650119






1 Functional Relationships(s)
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1 We have developed an allele-specific oligonucleotide (ASO) method to detect mutations in a large number of GSD 1a patients. 1,5-anhydroglucitol glucose-6-phosphatase catalytic subunit 1 Homo sapiens