Concepedia

Minna Savukoski

MS

5

Publications

632

Citations

5

H-Index

1994

Active since

Affiliations

Institute for Molecular Medicine Finland(Current)

University of Helsinki

Helsinki University Hospital

Minna Savukoski is an author at Institute for Molecular Medicine Finland specializing in developmental biology, pathology, and medicine.

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Publications per year

1994–2000

5

Publications

5

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

Minna Savukoski, Tuomas Klockars, Ville Holmberg et al. · Nature Genetics · 1998 · 304 citations

, , +6

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Minna Savukoski, Marjo Kestilä, Rhys Williams et al. · PubMed · 1994 · 108 citations

Phenotype–genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)

Ville Holmberg, Leena Lauronen, Taina Autti et al. · Neurology · 2000 · 83 citations

, , +20

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Teppo Varilo, Minna Savukoski, Reijo Norio et al. · PubMed · 1996 · 82 citations

Efficient Construction of a Physical Map by Fiber-Fish of the CLN5 Region: Refined Assignment and Long-Range Contig Covering the Critical Region on 13q22

Tuomas Klockars, Minna Savukoski, Juha Isosomppi et al. · Genomics · 1996 · 55 citations · Full text

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