1.
J Inherit Metab Dis
; 26(8): 811-2, 2003.
Artigo
em Inglês
| MEDLINE
| ID: mdl-14765536
RESUMO
Sequence analysis of 26 patients from Mainland China with glycogen storage disease type Ia revealed a high frequency of two mutations in the glucose-6-phosphatase gene. These mutations, 727G>T and R83H, were also found to be in linkage disequilibrium with a polymorphism at position 1176. These findings have implications for carrier detection and prenatal diagnosis of this disease in the Chinese population.