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Human Mutation|June 20, 1998
Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathiesK Silander, P Meretoja, V Juvonen, et al.Pediatric Neurology|May 7, 2002
Phenotypic spectrum of Salla disease, a free sialic acid storage disorderTarja T Varho, Liisa E Alajoki, Kristiina M Posti, et al.Human Molecular Genetics|June 1, 1996
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancerM Nyström-Lahti, Y Wu, A L Moisio, et al.Nature Genetics|December 2, 1999
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseasesF W Verheijen, E Verbeek, N Aula, et al.Genome Research|August 1, 1995
Genes and languages in Europe: an analysis of mitochondrial lineagesA Sajantila, P Lahermo, T Anttinen, et al.Journal of Endocrinological Investigation|May 29, 2009
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predispositionO Vierimaa, A Villablanca, A Alimov, et al.Human Molecular Genetics|February 3, 2000
Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)J Mykkänen, D Torrents, M Pineda, et al.Nature Genetics|March 18, 1999
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance geneD Torrents, J Mykkänen, M Pineda, et al.Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine|February 6, 1999
Increased brain glucose utilization in Salla disease (free sialic acid storage disorder)H Suhonen-Polvi, T Varho, L Metsähonkala, et al.European Journal of Endocrinology|September 4, 2007
Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlationO Vierimaa, T M L Ebeling, S Kytölä, et al.Pageof 17