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Article

Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.

Human mutation - 1 Jan 1999

Marie S, Cuppens H, Heuterspreute M, Jaspers M, Tola E Z, Gu X X, Legius E, Vincent M F, Jaeken J, Cassiman J J, Van den Berghe G

Abstract excerpt

The deficiency of adenylosuccinate lyase (ADSL, also termed adenylosuccinase) is an autosomal recessive disorder characterized by the accumulation in body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most ADSL-deficient children display mar...

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Child
DNA Mutational Analysis
DNA Primers
Intellectual Disability
Mutation, Missense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Reverse Transcriptase Polymerase Chain Reaction

Source

Identifiers

PMID: 10090474
DOI: 10.1002/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D

Genes

ADSL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-10090474-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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