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Article

Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.

Human mutation - 1 Jan 1998

Neuner-Jehle M, Munier F, Kobetz A, Sahly I, Uteza Y, Mermoud A, Schorderet D F, Dufier J L, Abitbol M

Abstract excerpt

We report two novel PAX6 mutations in aniridia patients of two Swiss pedigrees (We, Sc) which give rise to different phenotypes. An SSCP analysis of the PAX6 14 exons reveals electrophoretic mobility shifts exclusively in exons 5 and 12 of aniridia patients. As determined by bidirectional sequenc...

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Source

Identifiers

PMID: 10694925
DOI: 10.1002/(SICI)1098-1004(1998)12:2<138::AID-HUMU17>3.0.CO;2-D

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-10694925-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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