Literature DB >> 7137946

Use of fibroblast culture to diagnose and genotype familial hypercholesterolaemia.

F A Spengel, K M Harders-Spengel, C F Keller, A Wieczorek, G Wolfram, N Zöllner.   

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Year:  1982        PMID： 7137946     DOI： 10.1159/000176569

Source DB:  PubMed          Journal:  Ann Nutr Metab        ISSN： 0250-6807            Impact factor:   3.374


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  12 in total

1.  Identification of a silent point mutation in the LDL-receptor gene by direct DNA sequencing.

Authors:  H Schuster; S Richter; G Stratmann; C Keller; G Wolfram; N Zöllner
Journal:  Klin Wochenschr       Date:  1991-08-16

2.  Identification of a 76-year-old patient with compound heterozygous familial hypercholesterolemia by haplotype analysis of the LDL receptor gene.

Authors:  H J Fischer; H Schuster; C Keller; G Wolfram; N Zöllner
Journal:  Klin Wochenschr       Date:  1991-11-15

3.  Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.

Authors:  H Schuster; G Rauh; C Gerl; C Keller; G Wolfram; N Zöllner
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100.

Authors:  G Rauh; H Schuster; J Fischer; C Keller; G Wolfram; N Zöllner
Journal:  Klin Wochenschr       Date:  1991-05-03

5.  Atherosclerosis of the carotid arteries documented by duplex scan as a predictor of coronary artery disease in familial hyperlipidemias.

Authors:  H M Schuster; K K Kröner; C Keller; F A Spengel; G Wolfram; N Zöllner
Journal:  Klin Wochenschr       Date:  1987-01-05

6.  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

7.  Atherosclerosis of the carotid arteries in young patients with familial hypercholesterolemia.

Authors:  F A Spengel; B Kaess; C Keller; K K Kröner; M Schreiber; H Schuster; N Zöllner
Journal:  Klin Wochenschr       Date:  1988-01-15

8.  Identification of the 408 valine to methionine mutation in the low density lipoprotein receptor in a German family with familial hypercholesterolemia.

Authors:  H Schuster; H J Fischer; C Keller; G Wolfram; N Zöllner
Journal:  Hum Genet       Date:  1993-04       Impact factor: 4.132

9.  Hyperlipidaemia and premature coronary artery disease associated with sex-change in a female.

Authors:  C K ffrench-Constant; F A Spengel; G R Thompson
Journal:  Postgrad Med J       Date:  1985-01       Impact factor: 2.401

10.  [Extracardiac atherosclerosis in patients with familial hypercholesterolemia].

Authors:  C Keller; O Seidl; G Wolfram; N Zöllner
Journal:  Klin Wochenschr       Date:  1983-11-15
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