MMAA
MMAA (Methylmalonic aciduria (cobalamin deficiency) cblA type) هوَ بروتين يُشَفر بواسطة جين MMAA في الإنسان.[1]
المراجع
- "Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements"، Proc. Natl. Acad. Sci. U.S.A.، 99 (24): 15554–9، نوفمبر 2002، doi:10.1073/pnas.242614799، PMC 137755، PMID 12438653.
قراءة متعمقة
- "Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase."، J. Biol. Chem.، 281 (26): 17838–44، 2006، doi:10.1074/jbc.M600047200، PMID 16641088.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."، Genome Res.، 14 (10B): 2121–7، 2004، doi:10.1101/gr.2596504، PMC 528928، PMID 15489334.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs."، Nat. Genet.، 36 (1): 40–5، 2004، doi:10.1038/ng1285، PMID 14702039.
- "Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation."، Mol. Genet. Metab.، 82 (4): 329–33، 2004، doi:10.1016/j.ymgme.2004.05.002، PMID 15308131.
- "Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group."، J. Inherit. Metab. Dis.، 31 (1): 55–66، 2008، doi:10.1007/s10545-007-0667-y، PMID 17957493.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences."، Proc. Natl. Acad. Sci. U.S.A.، 99 (26): 16899–903، 2002، doi:10.1073/pnas.242603899، PMC 139241، PMID 12477932.
- "Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB)."، Pediatr. Res.، 62 (2): 225–30، 2007، doi:10.1203/PDR.0b013e3180a0325f، PMID 17597648.
- "Spondylocostal dysostosis associated with methylmalonic aciduria."، Genet Test Mol Biomarkers، 13 (2): 181–3، 2009، doi:10.1089/gtmb.2008.0069، PMID 19371216.
- بوابة طب
- بوابة علم الأحياء الخلوي والجزيئي
- بوابة الكيمياء الحيوية
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.