Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference45 articles.
1. A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male hunter patient;Birot;Hum Mutat,1996
2. Reverse mutations in the fragile X syndrome;Brown;Am J Med Genet,1996
3. Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome;Clarke;Am J Hum Genet,1992
4. The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells;de Graaff;Am J Med Genet,1996
5. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients;de Graaff;Hum Mol Genet,1995
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3. Unravelling the link between neurodevelopmental disorders and short tandem CGG-repeat expansions;Emerging Topics in Life Sciences;2023-09-28
4. Beyond Trinucleotide Repeat Expansion in Fragile X Syndrome: Rare Coding and Noncoding Variants in FMR1 and Associated Phenotypes;Genes;2021-10-22
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