Lasse Lönnqvist

A Novel Mutation of the Fibrillin Gene Causing Ectopia Lentis

Lasse Lönnqvist, A. H. Child, Katariina Kainulainen et al. · Genomics · 1994 · 92 citations

Novel Mutation, Genetics, Pathogenesis +2

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

Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations

Lasse Lönnqvist · Human Molecular Genetics · 1998 · 63 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

Developmental Biology, Mendelian Disorder, Genetic Disorder +9

An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.

Leena Karttunen, Lasse Lönnqvist, Maurice Godfrey et al. · Genome Research · 1996 · 26 citations · Full text

Clinical Mfs Phenotype, Engineering, Genetics +22