onr:"swepub:oai:gup.ub.gu.se/59288"
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- Schollen, E (author)
Increased recurrence risk in congenital disorders of glycosylation type Ia (CDG-Ia) due to a transmission ratio distortion.
- Article/chapterEnglish2004
Publisher, publication year, extent ...
- BMJ,2004
Numbers
- LIBRIS-ID:oai:gup.ub.gu.se/59288
- https://gup.ub.gu.se/publication/59288URI
- https://doi.org/10.1136/jmg.2004.022350DOI
Supplementary language notes
- Language:English
Part of subdatabase
- SwePubSwePub
Classification
Subject headings and genre
- Alleles
- Carbohydrate-Deficient Glycoprotein Syndrome
- diagnosis
- genetics
- Female
- Genetic Predisposition to Disease
- Genotype
- Glycosylation
- Heterozygote Detection
- Humans
- Mutation
- Missense
- Phosphotransferases (Phosphomutases)
- deficiency
- genetics
- Pregnancy
- Prenatal Diagnosis
Added entries (persons, corporate bodies, meetings, titles ...)
- Kjaergaard, S (author)
- Martinsson, Tommy,1956Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xmarto (author)
- Vuillaumier-Barrot, S (author)
- Dunoe, M (author)
- Keldermans, L (author)
- Seta, N (author)
- Matthijs, Gert (author)
- Göteborgs universitetInstitutionen för kvinnors och barns hälsa, Avdelningen för pediatrik (creator_code:org_t)
Related titles
- In:Journal of medical genetics: BMJ41:11, s. 877-801468-6244
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- University of Gothenburg
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