Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase-Reference-Cited by-同舟云学术

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase

Published:2005-07-14 Issue:6 Volume:117 Page:565-570
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Leimkühler Silke,Charcosset Mathilde,Latour Philippe,Dorche Claude,Kleppe Soledad,Scaglia Fernando,Szymczak Irmina,Schupp Petra,Hahnewald Rita,Reiss Jochen

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-1341-9.pdf

Reference25 articles.

1. Bertoni C, Morris GE, Rando TA (2005) Strand bias in oligonucleotide-mediated dystrophin gene editing. Hum Mol Genet 14:221–233

2. Glaser JH, DeMoss JA (1972) Comparison of nitrate reductase mutants of Escherichia coli selected by alternative procedures. Mol Gen Genet 116:1–10

3. Gray TA, Nicholls RD (2000) Diverse splicing mechanisms fuse the evolutionarily conserved bicistronic MOCS1A and MOCS1B open reading frames. RNA 6:928–936

4. Gross-Hardt S, Reiss J (2002) The bicistronic MOCS1 gene has alternative start codons on two mutually exclusive exons. Mol Genet Metab 76:340–343

5. Hanzelmann P, Schwarz G, Mendel RR (2002) Functionality of alternative splice forms of the first enzymes involved in human molybdenum cofactor biosynthesis. J Biol Chem 277:18303–18312

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