Intron-Size Constraint as a Mutational Mechanism in Rothmund-Thomson Syndrome
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Exon recognition in vertebrate splicing;Berget;J Biol Chem,1995
2. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products;Kitao;Genomics,1999
3. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome;Kitao;Nat Genet,1999
4. Initial sequencing and analysis of the human genome;Lander;Nature,2001
5. Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene;Li;J Biol Chem,2000
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