FRAXE mutation analysis in three spanish families-Reference-Cited by-同舟云学术

FRAXE mutation analysis in three spanish families

Published:1996-08-09 Issue:2 Volume:64 Page:434-440
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Carbonell Pablo,López Isabel,Gabarrón Joaquina,Bernabé M. J.,Lucas J. M.,Guitart Miriam,Gabau E.,Glover Guillermo

Publisher

Wiley

Subject

Genetics(clinical)

Reference12 articles.

1. Somatic instability of CTG repeat in myotonic dystrophy

2. Fragile X mental retardation and the iduronate sulphatase locus: Testing laird's model of Fra(X) inheritance

3. (1989): X-linked mental retardation and the fragile X syndrome: A clinical approach. In (ed): The Fragile X Syndrome. Oxford: Oxford University Press, pp 1–39.

4. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

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2. Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay;American Journal of Medical Genetics Part A;2011-11-07

3. Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?;European Journal of Human Genetics;2008-02-20

4. FraX‐E: underdiagnosed, undertreated, under‐researched and misunderstood?;Advances in Mental Health and Learning Disabilities;2007-09-01

5. Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of theFMR2 gene;American Journal of Medical Genetics Part A;2007