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3 in total

1. Pst I RFLP close to the LDL receptor gene.

Authors: H Funke; J Klug; P Frossard; R Coleman; G Assmann
Journal: Nucleic Acids Res Date: 1986-10-10 Impact factor: 16.971

2. Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes.

Authors: V Lindgren; K L Luskey; D W Russell; U Francke
Journal: Proc Natl Acad Sci U S A Date: 1985-12 Impact factor: 11.205

3. Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene.

Authors: H H Hobbs; M A Lehrman; T Yamamoto; D W Russell
Journal: Proc Natl Acad Sci U S A Date: 1985-11 Impact factor: 11.205

3 in total

20 in total

1. A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation.

Authors: M R Nelson; S L Kardia; R E Ferrell; C F Sing
Journal: Genome Res Date: 2001-03 Impact factor: 9.043

Review 2. The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia.

Authors: S Humphries; R Taylor; M Jeenah; M Seed
Journal: J Inherit Metab Dis Date: 1988 Impact factor: 4.982

3. TaqI polymorphism in the LDL receptor gene and a TaqI 1.5-kb band associated with familial hypercholesterolemia.

Authors: K Yamakawa; T Okafuji; Y Iwamura; K Yuzawa; J Satoh; N Hattori; Y Yamanouchi; H Yanagi; K Kawai; S Tsuchiya
Journal: Hum Genet Date: 1988-09 Impact factor: 4.132

4. Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus.

Authors: R Taylor; M Jeenah; M Seed; S Humphries
Journal: J Med Genet Date: 1988-10 Impact factor: 6.318

5. Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions.

Authors: H H Hobbs; E Leitersdorf; J L Goldstein; M S Brown; D W Russell
Journal: J Clin Invest Date: 1988-03 Impact factor: 14.808

6. Multiple mutations underlying familial hypercholesterolemia in the South African population.

Authors: H E Henderson; M J Kotze; G M Berger
Journal: Hum Genet Date: 1989-08 Impact factor: 4.132

7. Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop.

Authors: T P Leren; K Solberg; O K Rødningen; O Røsby; S Tonstad; L Ose; K Berg
Journal: Hum Genet Date: 1993-08 Impact factor: 4.132

8. Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

Authors: A V Peeters; L F Van Gaal; L Theart; E Langenhoven; M J Kotze
Journal: Hum Genet Date: 1995-10 Impact factor: 4.132

9. Identification of the serine-156 to leucine mutation in the low-density lipoprotein receptor in a German family with familial hypercholesterolemia.

Authors: H Schuster; P Ostwald; P Keller; G Wolfram; C Keller
Journal: Clin Investig Date: 1993-02

10. Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.

Authors: A R Miserez; H Schuster; N Chiodetti; U Keller
Journal: Am J Hum Genet Date: 1993-04 Impact factor: 11.025