A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome
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[1] R. Karchin,et al. Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions , 2014, Human mutation.
[2] F. Escande,et al. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause , 2014, Clinical genetics.
[3] I. Bottillo,et al. A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation , 2014, Molecular Syndromology.
[4] Simon M Lin,et al. Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome? , 2014, American journal of medical genetics. Part A.
[5] D. Wieczorek,et al. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome , 2013, Human Genetics.
[6] Jay Shendure,et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. , 2012, American journal of human genetics.
[7] D. Waggoner,et al. Deletion of 1q in a patient with acrofacial dysostosis. , 1999, American journal of medical genetics.
[8] P. A. Friedman,et al. Nager acrofacial dysostosis: male-to-male transmission in 2 families. , 1991, American journal of medical genetics.
[9] B. Hall. Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. , 1989, American journal of medical genetics.
[10] B. Mogilner,et al. Autosomal recessive inheritance of Nager acrofacial dysostosis. , 1988, Journal of medical genetics.
[11] N. Uldbjerg,et al. Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. , 2016, European journal of medical genetics.
[12] E. Trevisson,et al. Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay , 2015, Clinical chemistry and laboratory medicine.
[13] V. Pertegato,et al. Is CFTR 621+3 A>G a cystic fibrosis causing mutation? , 2010, Journal of Human Genetics.