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Mechanistic aspects involved in hyperlipidemia occuring in glycogen storage disease type I (GSD-I) patients

โœ Scribed by E. Delvin; P. Julien; E. Seidman; E. Levy


Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
259 KB
Volume
28
Category
Article
ISSN
0009-9120

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Identification of three novel mutations
โœ Pascale Trioche; Jeanne Francoual; Jacqueline Chalas; Liliane Capel; Olivier Ber ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 10 KB ๐Ÿ‘ 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