| Autor: |
Schollen, E., Kjaergaard, S., Martinsson, T., Vuillaumier-Barrot, S., Dunoe, M., Keldermans, L., Seta, N., Matthijs, G. |
| Předmět: |
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| Zdroj: |
Journal of Medical Genetics; Nov2004, Vol. 41 Issue 11, p877-880, 4p |
| Abstrakt: |
Cites a study on the association of recurrence risk in congenital disorders of glycosylation type la (CDG-la) with transmission ratio distortion. Examination of carrier frequency of the frequent R141H mutation in the PMM2 gene; Relation of mutated alleles with reproductive advantage at the stage of gametogenesis, fertilization and embryogenesis; Evaluation of increased recurrence risk in CDG-la families. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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