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Article

Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency.

American journal of medical genetics - 16 Jul 1999

Battisti C, Loudianos G, Rufa A, Dotti M T, Sangiorgi S, Dessì V, Lovicu M, Pirastu M, Federico A

Abstract excerpt

We have studied a patient with Wilson disease (WD), belonging to a family segregating late-onset, dominant cerebellar ataxia. Analysis of the WD gene showed that the patient is a compound heterozygote, carrying the 14His1069Gln mutation from the father and the 8Gly710Ser mutation from the mother. The 8Gly710Ser is a mutation described previously only in a Swedish patient. Our patient is also homozygous for...

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Identifiers

PMID: 10406672
DOI: 10.1002/(sici)1096-8628(19990716)85:2<175::aid-ajmg13>3.0.co;2-5

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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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