A missense mutation in the FALDH gene identified in Sjogren-Larsson syndrome patients originating from the northern part of Sweden

Human Genetics

Volumn 100, Issue 2, 1997, Pages 201-203

  Sillén, Anna ^a   Jagell, Sten ^a,b   Wadelius, Claes ^a  

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b Habilitation Unit   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE DEHYDROGENASE; COMPLEMENTARY DNA;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; EXON; GENE FREQUENCY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; SJOEGREN LARSSON SYNDROME; SWEDEN;

ALDEHYDE OXIDOREDUCTASES; CANADA; EUROPE; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MIDDLE EAST; PEDIGREE; POINT MUTATION; SJOGREN-LARSSON SYNDROME; SWEDEN;

EID: 0030807667     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050490     Document Type: Article

References (6)

1. De Laurenzi V, Rogers GR, Hamrock DJ, Marekov LN, Steinert PM, Compton JG, Markova N, Rizzo WB (1996) Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene. Nat Genet 12:52-57
2. Jagell S, Polland W, Sandgren O (1980) Specific changes in the fundus typical for the Sjögren-Larsson syndrome. Acta Ophthalmol 58:321-330
3. Jagell S, Gustavson K-H, Holmgren G (1981) Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet 19:233-256
4. Pigg M, Jagell S, Sillén A, Weissenbach J, Gustavson K-H, Wadelius C (1994) The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet 8:361-364
5. + oxidoreductase in cultured fibroblasts. J Clin Invest 88:1643-1648
6. Sjögren T, Larsson T (1957) Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatr Neurol Scand Suppl 113, 32:1-113