An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency-Reference-Cited by-同舟云学术

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency

Published:2009-06-20 Issue:4 Volume:32 Page:560-569
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Arenas M.,Fairbanks L. D.,Vijayakumar K.,Carr L.,Escuredo E.,Marinaki A. M.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-009-1151-7

Reference29 articles.

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2. Breitbart RE, Nguyen HT, Medford RM, Destree AT, Mahdavi V, Nadal-Ginard B (1985) Intricate combinatorial patterns of exon splicing generate multiple regulated troponin T isoforms from a single gene. Cell 41: 67–82. doi: 10.1016/0092–8674(85)90062–5

3. Buratti E, Baralle M, De Conti L, et al (2004) hnRNP H binding at the 5′ splice site correlates with the pathological effect of two intronic mutations in the NF-1 and TSHbeta genes. Nucleic Acids Res 32: 4224–4236. doi: 10.1093/nar/gkh752

4. Buratti E, Chivers M, Kralovicova J, et al (2007) Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 35: 4250–4263. doi: 10.1093/nar/gkm402

5. Cartegni L, Chew SL, Krainer AR (2002) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285–298. doi: 10.1038/nrg775

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