Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6-Reference-Cited by-同舟云学术

Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6

Published:2001-01 Issue:1 Volume:44 Page:25-32
ISSN:0003-3995
Container-title:Annales de Génétique
language:en
Short-container-title:Annales de Génétique

Author:

Gilbert Brigitte,Rouis Mustapha,Griglio Sabine,de Lumley Lionel,Laplaud Paul-Michel

Publisher

Elsevier BV

Subject

Genetics

Reference91 articles.

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2. A new mutation in the human lipoprotein lipase gene causing familial hyperchylomicronaemia;Anwar;Mol. Pathol.,1997

3. Lipoprotein lipase Bethesda: a single amino acid substitution (Ala176→Thr) leads to abnormal heparin binding and loss of enzymatic activity;Beg;Proc. Natl. Acad. Sci. USA,1990

4. Homozygous deletion of exon 9 causes lipoprotein deficiency: possible intron-Alu recombination;Benlian;J. Lipid. Res.,1995

5. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency;Benlian;Am. J. Hum. Genet.,1996

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