A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD)

Clinical Genetics

Volumn 50, Issue 2, 1996, Pages 106-107

  Wiebusch, H ^a   Muntonl, Sa ^a   Funke, H ^a   Lu, F ^a   Seedorf, U ^a   Oberle, S ^b   Schwarzer, U ^b   Assmann, G ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b KLINIKUM NÜRNBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACID LIPASE; DNA MARKER;

AMINO ACID SUBSTITUTION; ARTICLE; CHOLESTEROL ESTER STORAGE DISEASE; CHROMOSOME 10Q; CLINICAL ARTICLE; DNA POLYMORPHISM; EXON; GENE FREQUENCY; GENE LOCUS; HUMAN; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; WOLMAN DISEASE;

EID: 0029958071     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02359.x     Document Type: Article

References (5)

1. Anderson RA, Rao N, Byrum RS, Rothschild CB, Bowden DW, Hayworth R, Pettenati M. In situ localisation of the genetic locus encoding the lysosomal acid lipase/cholesterol esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3. Genomics 1993: 15: 245-247.
2. Assmann G, Seedorf U. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In: Scriver CR, Beaudet LA, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease, 7th edn. New York: McGraw-Hill, 1995: 2563-2587.
3. Funke H, Assmann G. The low-down on lipoprotein lipase. Nature Genet 1995: 10: 6-7.
4. Muntoni Sa, Wiebusch H, Funke H, Ros E, Seedorf U, Assmann G. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Hum Genet 1995: 95: 491-494.
5. Muntoni Sa, Wiebusch H, Funke H, Seedorf U, Roskos M, Schulte H, Saku K, Arakawa K, Balestrieri A, Assmann G. A missense mutation (Thr-6Pro) in the lysosomal acid lipase (LAL) gene is present with a high frequency in three different ethnic populations: impact on serum lipoprotein concentrations. Hum Genet 1996: 97: 265-267.