A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

Kirsi Huoponen, Johanna Vilkki, P Aula, +2

PubMed

Genes and languages in Europe: an analysis of mitochondrial lineages.

Antti Sajantila, Päivi Lahermo, Tiiu Anttinen, +8

Genome Research

Comparative GenomicsGeneticsGene FrequenciesMolecular GeneticsGenomics +16

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Elina Ikonen, Marc Baumann, K Grön, +5

The EMBO Journal

UrologyAutoimmune DiseaseGenetic DisorderGeneticsInherited Metabolic Disease +6

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

Johanna Vilkki, J. Ott, M L Savontaus, +2

PubMed

The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA.

Päivi Lahermo, Antti Sajantila, P. Sistonen, +4

PubMed

Genetic homogeneity of lysinuric protein intolerance

Tuija Lauteala, Juha Mykkänen, Maria Pia Sperandeo, +6

European Journal of Human Genetics

Lysinuric Protein IntoleranceAllergyGenetic DisorderGeneticsPathogenesis +2

Purification and properties of human hepatic aspartylglucosaminidase.

Margaret M. McGovern, P Aula, Robert J. Desnick

Journal of Biological Chemistry

Isolation of a human hepatic 60 kDa aspartylglucosaminidase consisting of three non-identical polypeptides

Marc Baumann, Laura‐Maria Peltonen, P Aula, +1

Biochemical Journal

Protein ChemistryNon-identical PolypeptidesEc 3.5.1.26Human Hepatic 60Glycosylation +13

Regional assignment of the structural gene for human alpha-L-iduronidase.

Edward H. Schuchman, Kenneth H. Astrin, P Aula, +1

Proceedings of the National Academy of Sciences

ImmunogeneticsXenotransplantationCytogeneticsStructural GeneGenetics +10

Mapping of the gene for glutathione reductase on chromosome 8.

de la Chapelle A, A. Icén, P Aula, +3

PubMed