Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries-Reference-Cited by-同舟云学术

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

Published:1994 Issue:1 Volume:3 Page:52-58
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Ma Yuanhong,Liu Ming-Sun,Chitayat David,Bruin Taco,Beisiegel Ulrike,Benlian Pascale,Foubert Luc,De Gennes Jean Luc,Funke Harald,Forsythe Ian,Blaichman Shirley,Papanikolaou Maria,Erkelens D. W.,Kastelein John,Brunzell John D.,Hayden Michael R.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference22 articles.

1. Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.

2. Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage.

3. (1989) Lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In (eds): The Metabolic Basis of Inherited Disease, 6th ed. New York: McGraw-Hill, pp 1165-1180.

4. The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

5. DNA restriction fragment length polymorphisms and heterozygosity in the human genome

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