Concepedia

Leena Karttunen

LK

9

Publications

677

Citations

9

H-Index

1994

Active since

Affiliations

Institute for Molecular Medicine Finland(Current)

University of Münster

University of Nebraska Medical Center

Leena Karttunen is an author at Institute for Molecular Medicine Finland specializing in genetics, molecular genetics, and medicine.

Top concepts

Publications per year

1994–1999

9

Publications

9

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

Katariina Kainulainen, Leena Karttunen, Lea Puhakka et al. · Nature Genetics · 1994 · 260 citations

, , +8

A Gene for Inherited Cutaneous Venous Anomalies (“Glomangiomas”) Localizes to Chromosome 1p21-22

Laurence M. Boon, Pascal Brouillard, Alexandre Irrthum et al. · The American Journal of Human Genetics · 1999 · 175 citations · Full text

, , +9

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

Leena Karttunen, Michael Raghunath, Lasse Lönnqvist et al. · PubMed · 1994 · 64 citations

A Point Mutation Creating an ExtraN-Glycosylation Site in Fibrillin-1 Results in Neonatal Marfan Syndrome

Lasse Lönnqvist, Leena Karttunen, Terhi Rantamäki et al. · Genomics · 1996 · 57 citations

, , +9

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

Gwenaëlle Collod‐Béroud, Christophe Béroud, Lesley C. Adès et al. · Nucleic Acids Research · 1997 · 37 citations · Full text

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