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Article

FRAXE mutation analysis in three Spanish families.

American journal of medical genetics - 9 Aug 1996

Carbonell P, López I, Gabarrón J, Bernabé M J, Lucas J M, Guitart M, Gabau E, Glover G

Abstract excerpt

Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotype/ cytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or presenting different expansions at the CGG FRAXE triplet. In addition, we analyze the FRAXE mutation in sperm DNA...

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PMID: 8844099
DOI: 10.1002/(SICI)1096-8628(19960809)64:2<434::AID-AJMG40>3.0.CO;2-D

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

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