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Article

Location of the mutation site in the first two reported cases of analbuminemia.

Clinical biochemistry - 1 Mar 2010

Ruhoff Mary S, Greene Michael W, Peters Theodore

Abstract excerpt

OBJECTIVE: To find the mutation causing the first two reported cases of analbuminemia. DESIGN AND METHODS: DNA was extracted from blocks of fixed embedded liver. Exons of the albumin gene were amplified and sequenced. RESULTS: A substitution of C>T in exon 12 was found in both subjects, changing the codon CGA for arginine (aa509) to TGA, a stop codon. CONCLUSIONS: The data suggest that analbuminemia is the result...

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Source

Identifiers

PMID: 20025859
DOI: 10.1016/j.clinbiochem.2009.12.002

Genes

CGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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