A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis–ptosis–epicanthus inversus
- 4 October 2004
- journal article
- Published by Elsevier in Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
- Vol. 554 (1-2) , 19-22
- https://doi.org/10.1016/j.mrfmmm.2004.02.014
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- When the Message Goes AwryCell, 2001
- Increased efficiency of mRNA 3′ end formation: a new genetic mechanism contributing to hereditary thrombophiliaNature Genetics, 2001
- Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlationHuman Molecular Genetics, 2001
- The cap-to-tail guide to mRNA turnoverNature Reviews Molecular Cell Biology, 2001
- The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndromeNature Genetics, 2001
- Aberrant mRNAs with extended 3′ UTRs are substrates for rapid degradation by mRNA surveillanceRNA, 1999
- A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23Human Genetics, 1995
- Blepharophimosis syndrome is linked to chromosome 3qHuman Molecular Genetics, 1995
- Integration of human papillomavirus type 16 DNA into the human genome leads to increased stability of E6 and E7 mRNAs: implications for cervical carcinogenesis.Proceedings of the National Academy of Sciences, 1995
- Construction of human linkage maps: Likelihood calculations for multilocus linkage analysisGenetic Epidemiology, 1986