A Sillen

Summary

Affiliation: Swedish Institute for Infectious Disease Control
Country: Sweden

Publications

  1. ncbi Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome
    A Sillen
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Hum Mutat 12:377-84. 1998
  2. ncbi A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden
    A Sillen
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Hum Genet 100:201-3. 1997
  3. ncbi First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome
    A Sillen
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Prenat Diagn 17:1147-9. 1997
  4. ncbi The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
    M Pigg
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Nat Genet 8:361-4. 1994

Collaborators

Detail Information

Publications4

  1. ncbi Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome
    A Sillen
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Hum Mutat 12:377-84. 1998
    ..We also observed silent sequence variants in the FALDH gene and a base pair substitution in exon 5 that alters aspartic acid to asparagine, all of which are considered polymorphisms...
  2. ncbi A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden
    A Sillen
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Hum Genet 100:201-3. 1997
    ..As a consequence, a highly conserved proline is replaced by a serine. The mutation was found in 49 out of 58 affected chromosomes and could be the most widely spread SLS mutation in the world...
  3. ncbi First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome
    A Sillen
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Prenat Diagn 17:1147-9. 1997
    ..Prenatal diagnosis and PCR-based mutation analysis was performed in a pregnancy where the parents are heterozygous carriers for this mutation. The fetus was found to be homozygous for the mutation and thus affected by SLS...
  4. ncbi The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
    M Pigg
    Department of Clinical Genetics, University Hospital, Uppsala, Sweden
    Nat Genet 8:361-4. 1994
    ..These markers map to the same location in reference pedigrees. Strong allelic association (chi-square 60.28, p < 0.0003) to D17S805 suggests that the mutation is located close to this marker...