Literature DB >> 2088165

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein.

H H Hobbs1, D W Russell, M S Brown, J L Goldstein.   

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Year:  1990        PMID： 2088165     DOI： 10.1146/annurev.ge.24.120190.001025

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN： 0066-4197            Impact factor:   16.830


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  149 in total

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Review 5.  Controlling protein compartmentalization to overcome disease.

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6.  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.

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7.  Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.

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8.  Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

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9.  Common and rare gene variants affecting plasma LDL cholesterol.

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10.  Two new polymorphisms in the coding sequence of the LDL receptor (LDLR) gene.

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Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132
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