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References

These sources were used to develop the Genetics Home Reference gene summary on the MAN2B1 gene.

Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O. Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet. 1999 Jan;64(1):77-88. PubMed citation
Entrez Gene
Essentials of Glycobiology (second edition, 2009): Glycoprotein Degradation
Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Am J Hum Genet. 1998 Oct;63(4):1015-24. PubMed citation
Hansen G, Berg T, Riise Stensland HM, Heikinheimo P, Klenow H, Evjen G, Nilssen Ų, Tollersrud OK. Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Biochem J. 2004 Jul 15;381(Pt 2):537-46. PubMed citation
OMIM: MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1
Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T. Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. Clin Chim Acta. 2007 Jan;375(1-2):136-9. Epub 2006 Jul 6. PubMed citation
Riise HM, Berg T, Nilssen O, Romeo G, Tollersrud OK, Ceccherini I. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB). Genomics. 1997 Jun 1;42(2):200-7. PubMed citation
Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. Hum Mutat. 2005 Mar;25(3):320. PubMed citation
Sun H, Wolfe JH. Recent progress in lysosomal alpha-mannosidase and its deficiency. Exp Mol Med. 2001 Mar 31;33(1):1-7. Review. PubMed citation


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