Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia.

doi:10.1111/j.1399-0004.1995.tb04062.x

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Article

Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia.

Clinical genetics - 1 Aug 1995

Schuster H, Manke C, Fischer J, Keller C, Wolfram G, Zöllner N

Abstract excerpt

We have identified the cytosine to thymine change in the codon for amino acid 408 which causes valine to be replaced by methionine in exon 9 of the LDL receptor gene in a 12-year-old Greek boy living in Germany, with homozygous familial hypercholesterolemia, by using polymerase chain reaction-amp...

Topics

Base Sequence
Child
Germany
Greece
Haplotypes
Humans
Hyperlipoproteinemia Type II
Male
Methionine
Molecular Sequence Data
Mutation
Receptors, LDL
Valine

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