A single base mutation at nucleotide position 3460 (nt 3460) in the ND1 gene in human mtDNA
was found to be associated with Leber hereditary optic neuroretinopathy (LHON). The G-…

An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement
leading to trisomy 20pter→20q11 and monosomy 22pter→22q11 was found in four …

Lysinuric protein intolerance (LPI; OMIM 222700) is a rare, recessive disorder with a worldwide
distribution, but with a high prevalence in the Finnish population 1; symptoms include …

Sialic acid storage diseases (SASD, MIM 269920) are autosomal recessive neurodegenerative
disorders that may present as a severe infantile form (ISSD) or a slowly progressive adult …

When mitochondrial DNA sequence variation is analyzed from a sample of 637 individuals
in 14 European populations, most populations show little differentiation with respect to each …

An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP)
was carried out in south western Finland, with a population of 435 000. The diagnosis was …

The genetic relationships between two Finno-Ugric-speaking populations, the Finns and the
Finnish Saami (Lapps), were studied by using PCR for six nuclear-DNA marker loci, …

Lysosomal free sialic acid–storage diseases include the allelic disorders Salla disease (SD)
and infantile sialic acid–storage disease (ISSD). The defective gene, SLC17A5, coding for …

• Severe mental retardation, coarse facial features, clumsiness, and speech failure were
common findings in three brothers and one female third-cousin of a family from northern Finland…

The aim of the study was to analyze effects of age, education and gender on acceptance of
genetic testing. Subjects, n=1 967 aged 15–69, were a stratified random sample of the …