Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro.

doi:10.1053/j.ajkd.2004.08.033

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Article

Renal apolipoprotein A-I amyloidosis associated with a novel mutant Leu64Pro.

American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Dec 2004

Murphy Charles L, Wang Shuching, Weaver Kristal, Gertz Morie A, Weiss Deborah T, Solomon Alan

Abstract excerpt

Apolipoprotein A-I amyloidosis (Apo A-I) is an inherited systemic disease that results from the pathologic deposition in tissues throughout the body of fibrils composed of Apo A-I-related molecules. This disorder has been linked to mutations occurring within the coding region of the Apo A-I gene and, to date, 11 such substitutions have been documented. In 4 of these cases, the kidney was the target organ of the...

Topics

Amino Acid Substitution
Amyloidosis, Familial
Apolipoprotein A-I
Humans
Kidney
Kidney Diseases
Leucine
Male
Middle Aged
Mutation
Proline

Source

Open in PubMed

Identifiers

PMID: 15558533
DOI: 10.1053/j.ajkd.2004.08.033

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