A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency.

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A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency.

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http://www.wikidata.org/entity/Q51756725

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2007 nî lūn-bûn

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2007年の論文

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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2007年学术文章

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A novel frameshift mutation of ...... e in familial LCAT deficiency.

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A novel frameshift mutation of the lecithin:cholesterol acyltransferase

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Item

label

A novel frameshift mutation of ...... e in familial LCAT deficiency.

@en

A novel frameshift mutation of the lecithin:cholesterol acyltransferase

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A novel frameshift mutation of ...... e in familial LCAT deficiency.

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A novel frameshift mutation of the lecithin:cholesterol acyltransferase

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P1476

A novel frameshift mutation of ...... e in familial LCAT deficiency.

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P2093

Annette Kraemer-Guth

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Bernhard U Bender

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Dieter Schmidt

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Hartmut P H Neumann

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Thomas Quaschning

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P2860

Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression

An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease

The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.

A first British case of fish-eye disease presenting at age 75 years: a double heterozygote for defined and new mutations affecting LCAT structure and expression.

Probable linkage of LCAT locus in man to the alpha haptoglobin locus on chromosome 16.

Compromised LCAT function is associated with increased atherosclerosis.

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease.

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483-486

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scholarly article

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10.1515/CCLM.2007.102

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P478

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P577

2007-01-01T00:00:00Z

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P5875

6389965

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17439325

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