Affiliation: Vrije Universiteit Brussel
- Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferensW Lissens
Center for Medical Genetics, University Hospital of the Dutch speaking Brussels Free University, Belgium
Mol Hum Reprod 5:10-3. 1999..However, one patient was homozygous for a leucine to proline substitution at amino acid position 541 (L541P) of the CFTR. It is as yet not clear whether this change is involved in CBAVD in this male...
- Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha geneW Lissens
Department of Paediatric Neurology, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
Eur J Pediatr 158:853-7. 1999..CONCLUSION: Mutation identification in pyruvate dehydrogenase complex deficiency remains important especially for the determination of the recurrence risk and for reliable genetic counselling in couples with an affected child...
- Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiencyW Lissens
Center for Medical Genetics, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
Hum Mutat 15:209-19. 2000..The mutation was never present in the somatic cells of the father; in 63 mothers studied, 16 were carriers (25%). In four families, the origin of the new mutation was determined to be twice paternal and twice maternal...