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Article

S-adenosylhomocysteine hydrolase (AHCY) deficiency: two novel mutations with lethal outcome.

Human mutation - 1 Apr 2009

Vugrek Oliver, Beluzić Robert, Nakić Nikolina, Mudd S Harvey

Abstract excerpt

This paper reports studies of two novel, allelic missense mutations found in the S-adenosylhomocysteine hydrolase (AHCY) gene from a new case of AHCY deficiency in an infant girl who died at age four months. The mutations lead to replacement of arginine with cysteine (p.Arg49Cys) and aspartic acid with glycine (p.Asp86Gly). Functional analysis of recombinant proteins containing the mutations detected showed that...

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Identifiers

PMID: 19177456
DOI: 10.1002/humu.20985
PMCID: PMC2876820

Genes

AHCY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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