Concepedia

Birgitta Pousi

BP

Statistics

Publications

3

Citations

117

H-Index

3

Active since

1994

Affiliations

University of Oulu(Current)

Birgitta Pousi is an author at University of Oulu specializing in clinical genetics, molecular genetics, and genomics.

Top concepts

Publications per year

1994–1998

3

Publications

3

Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

Birgitta Pousi, Timo Hautala, Jari Heikkinen et al. · PubMed · 1994 · 73 citations

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene

Birgitta Pousi, Timo Hautala, James Hyland et al. · Human Mutation · 1998 · 28 citations

Alu-alu recombination results in duplication of seven exons in the lysyl hydroxylase gene from a patient with the type VI variant of Ehlers-Danlos syndrome

Birgitta Pousi, Timo Hautala, Jari Heikkinen et al. · Matrix Biology · 1994 · 16 citations

, , +10

1–3 of 3