Four DNA polymorphisms in the LDL-receptor gene and their use in diagnosis of familial hypercholesterolemia

Author:

Schuster H.,Stiefenhofer B.,Wolfram G.,Keller C.,Humphries S.,Huber A.,Z�llner N.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference24 articles.

1. Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 32:314?331

2. Brink PA, Steyn LT, Coetzee GA, Van der Westhuyzen DR (1987) Familial hypercholesterolemia in South African Afrikaners: PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominant founder gene effect. Hum Genet 77:32?35

3. Fredrickson DS, Goldstein JL, Brown MS (1978) The familial hyperlipoproteinemias. In: Stanbury JB Wyngaarden JB, Fredrickson DS (eds) The basis of inherited disease. McGraw-Hill, New York, pp 604?655

4. Funke H, Klug J, Frossard P, Coleman R, Assman G (1986a) PstI RFLP close to the LDL receptor gene. Nucleic Acids Res 14:7820

5. Funke H, Rust S, Assmann G (1986b) Detection of apolipoprotein E variants by an oligonucleotide melting procedure. Clin Chem 32: 1285?1289

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