Galactose-1-phosphate uridyl transferase gene mutations in women with premature ovarian failure
✍ Scribed by Barbara Mlinar; Ksenija Geršak; Nataša Karas; Irena Prodan Žitnik; Tadej Battelino; Jana Lukac-Bajalo
- Book ID
- 118445055
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 74 KB
- Volume
- 84
- Category
- Article
- ISSN
- 1556-5653
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Impaired galactose metabolism has been proposed as a risk factor for ovarian cancer and endometriosis, which is a putative precursor of endometrioid and clear cell histological sub-types of ovarian cancer. The prevalence of the most common galactose-1-phosphate uridyl transferase gene mutations, Q18
Classical galactosemia is caused by a deficiency in activity of the enzyme galactose-1-phosphate uridyl transferase (GALT), which, in turn, is caused by mutations at the GALT gene. The disorder exhibits considerable allelic heterogeneity and, at the end of 1998, more than 150 different base changes