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GLUCOSE-6-PHOSPHATASE ACTIVITY IN HUMAN PLACENTA: POSSIBLE DETECTION OF HETEROZYGOTE FOR GLYCOGEN-STORAGE DISEASE TYPE I

✍ Scribed by Matalon, Reuben; Michals, Kimberlee; Justice, Parvin; Deanching, MinervaNorella


Book ID
122389095
Publisher
The Lancet
Year
1977
Tongue
English
Weight
258 KB
Volume
309
Category
Article
ISSN
0140-6736

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Identification of three novel mutations
✍ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Olivier Ber πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 10 KB πŸ‘ 1 views

Three novel mutations, Q54P, W70X and T108I, were identified in the gene encoding glucose-6phosphatase in three patients with glycogen storage disease type Ia. Two sibs of Portuguese origin were homozygous for the Q54P mutation whereas the third patient, originating from both France and Lebanon, was