Hubert Smeets

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes (2007)

Jacobs, Lorraine, Gerards, Mike, Chinnery, Patrick, Dumoulin, John, De Coo, Ireneaus, Geraedts, Joep, ...

Little is known about the load of mutations and polymorphisms in the mitochondrial DNA (mtDNA) of human oocytes and the possible effect these mutations may have during life. To investigate this, we...

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes (2007)

Jacobs, Lorraine, Gerards, Mike, Chinnery, Patrick, Dumoulin, John, De Coo, Ireneaus, Geraedts, Joep, ...

Little is known about the load of mutations and polymorphisms in the mitochondrial DNA (mtDNA) of human oocytes and the possible effect these mutations may have during life. To investigate this, we...

mtDNA point mutations are present at various levels of heteroplasmy in human oocytes (2007)

Jacobs, Lorraine, Gerards, Mike, Chinnery, Patrick, Dumoulin, John, De Coo, Ireneaus, Geraedts, Joep, ...

Little is known about the load of mutations and polymorphisms in the mitochondrial DNA (mtDNA) of human oocytes and the possible effect these mutations may have during life. To investigate this, we...

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

Procaccio, Vincent, Mousson, Bénédicte, Beugnot, Réjane, Duborjal, Hervé, Feillet, François, Putet, Guy, ...

We have studied complex I (NADH-ubiquinone reductase) defects of the mitochondrial respiratory chain in 2 infants who died in the neonatal period from 2 different neurological forms of severe...

A long-range restriction map of the human chromosome 19q13 region: Close physical linkage between CKMM and the ERCC1 and ERCC2 genes

Smeets, Hubert, Bachinski, Linda, Coerwinkel, Marga, Schepens, Jan, Hoeijmakers, Jan, Van Duin, Marcel, ...

We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy...

Nuclear DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by transnuclear complementation of cultured fibroblasts

Procaccio, Vincent, Mousson, Bénédicte, Beugnot, Réjane, Duborjal, Hervé, Feillet, François, Putet, Guy, ...

We have studied complex I (NADH-ubiquinone reductase) defects of the mitochondrial respiratory chain in 2 infants who died in the neonatal period from 2 different neurological forms of severe...

A long-range restriction map of the human chromosome 19q13 region: Close physical linkage between CKMM and the ERCC1 and ERCC2 genes

Smeets, Hubert, Bachinski, Linda, Coerwinkel, Marga, Schepens, Jan, Hoeijmakers, Jan, Van Duin, Marcel, ...

We report on the physical ordering of genes in a relatively small area of chromosome 19, segment q13, containing the locus for myotonic dystrophy (DM), the most frequent heritable muscular dystrophy...