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.

scientific article published in April 1993

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. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/BF00184738
P698PubMed publication ID7682459

P50authorVilmundur GudnasonQ28050060
P2093author name stringS N McCarthy
Y T Mak
S Humphries
J Betteridge
P2860cites workThe human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNAQ24300736
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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reactionQ29618515
Common low-density lipoprotein receptor mutations in the French Canadian populationQ34247066
Ultrasensitive stain for proteins in polyacrylamide gels shows regional variation in cerebrospinal fluid proteinsQ34249010
Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction.Q34506598
Familial hypercholesterolemia (one form of familial type II hyperlipoproteinemia). A study of its biochemical, genetic and clinical presentation in childhoodQ34516873
A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi JewsQ35197085
Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in AfrikanersQ35814601
Treatment of familial hypercholesterolaemia. United Kingdom lipid clinics study of pravastatin and cholestyramineQ35821517
The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane proteinQ37794678
The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictionsQ37935123
A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sectQ38330622
Direct detection of point mutations by mismatch analysis: application to haemophilia B.Q40449237
Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresisQ40568914
Genetic evidence that the putative receptor binding domain of apolipoprotein B (residues 3130 to 3630) is not the only region of the protein involved in interaction with the low density lipoprotein receptorQ41687339
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 heteroduplexesQ43076454
Risks of ischaemic heart-disease in familial hyperlipoproteinaemic statesQ43924064
Rising cholesterol levels in children with familial hypercholesterolaemia.Q50552495
Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol.Q51021818
Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten casesQ61560931
Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levelsQ67488023
Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United KingdomQ67490826
Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemiaQ67883240
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UKQ67962834
Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletionQ68162143
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 electrophoresisQ68214126
Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in MunichQ68467660
Determination of the LDL receptor binding capacity of human lymphocytes by immunocytofluorimetric assayQ69181260
Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemiaQ69238529
Detection of familial hypercholesterolemia by assaying functional low-density-lipoprotein receptors on lymphocytesQ69271460
Identification of a deletion in the LDL receptor gene. A Finnish type of mutationQ69915127
Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotesQ93642277
P433issue4
P921main subjecthypercholesterolemiaQ762713
P304page(s)331-337
P577publication date1993-04-01
P1433published inJournal of Molecular MedicineQ6295593
P1476titleUse 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.
P478volume71

Reverse relations

cites work (P2860)
Q44683254Differences in the Phenotypic Characteristics of Subjects With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia
Q53015059European workshop on LDL receptor defects. European Working Group on Familial Hypercholesterolaemia.
Q72569923FH-Sydney 1 and 2: two novel frameshift mutations in exon 10 of the low-density lipoprotein receptor gene detected by heteroduplex formation
Q71644907Fluorescence-based mutation detection. Single-strand conformation polymorphism analysis (F-SSCP)
Q77372975Fluorescence-based single-strand conformation polymorphism analysis of the low density lipoprotein receptor gene by capillary electrophoresis
Q47795792Mutation analysis of exon 3 of the LDL receptor gene in patients with severe hypercholesterolemia
Q74127957Possible common mutations in the low density lipoprotein receptor gene in Chinese
Q71995474Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia
Q33676595Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation.
Q39718607Software and database for the analysis of mutations in the human LDL receptor gene
Q37385249The 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
Q41952976Utilities 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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