Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia-Reference-Cited by-同舟云学术

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

Published:1994 Issue:2 Volume:4 Page:102-113
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Jensen Henrik K.,Jensen Thomas G.,Jensen Lillian G.,Hansen Peter S.,Kjeldsen Margrethe,Andresen Brage S.,Nielsen Viggo,Meinertz Hans,Hansen Annebirthe B.,Bolund Lars,Færgeman Ole,Gregersen Niels

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia.

2. A rapid, sensitive method for detection of alkaline phosphatase-conjugated anti-antibody on Western blots

3. Optimal conditions for directly sequencing double-stranded PCR products with Sequenase

4. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

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