scholarly article | Q13442814 |
P356 | DOI | 10.1007/BF00184738 |
P698 | PubMed publication ID | 7682459 |
P50 | author | Vilmundur Gudnason | Q28050060 |
P2093 | author name string | S N McCarthy | |
Y T Mak | |||
S Humphries | |||
J Betteridge | |||
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A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect | Q38330622 | ||
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Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. | Q42601374 | ||
A PCR artifact: generation of heteroduplexes | Q43076454 | ||
Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states | Q43924064 | ||
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Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom | Q67490826 | ||
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia | Q67883240 | ||
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK | Q67962834 | ||
Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion | Q68162143 | ||
Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis | Q68214126 | ||
Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich | Q68467660 | ||
Determination of the LDL receptor binding capacity of human lymphocytes by immunocytofluorimetric assay | Q69181260 | ||
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia | Q69238529 | ||
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Identification of a deletion in the LDL receptor gene. A Finnish type of mutation | Q69915127 | ||
Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes | Q93642277 | ||
P433 | issue | 4 | |
P921 | main subject | hypercholesterolemia | Q762713 |
P304 | page(s) | 331-337 | |
P577 | publication date | 1993-04-01 | |
P1433 | published in | Journal of Molecular Medicine | Q6295593 |
P1476 | title | Use of the single-strand conformational polymorphism method to detect recurrent and novel mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia: detection of a novel mutation Asp200-->Gly. | |
P478 | volume | 71 |
Q44683254 | Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia |
Q53015059 | European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia. |
Q72569923 | FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation |
Q71644907 | Fluorescence-based mutation detection. Single-strand conformation polymorphism analysis (F-SSCP) |
Q77372975 | Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis |
Q47795792 | Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia |
Q74127957 | Possible common mutations in the low density lipoprotein receptor gene in Chinese |
Q71995474 | Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia |
Q33676595 | Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation. |
Q39718607 | Software and database for the analysis of mutations in the human LDL receptor gene |
Q37385249 | The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis |
Q41952976 | Utilities for high throughput use of the single strand conformational polymorphism method: screening of 791 patients with familial hypercholesterolaemia for mutations in exon 3 of the low density lipoprotein receptor gene |
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