Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis-Reference-Cited by-同舟云学术

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Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis

Published:2003-12 Issue:8 Volume:26 Page:819-820
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Beccari T.¹²,Bibi L.¹,Ricci R.³,Antuzzi D.³,Burgalossi A.¹,Costanzi E.¹,Orlacchio A.¹

Affiliation:

1. ; Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari; Universitá degli Studi di Perugia; Perugia

2. ; Dipartimento di Scienze Biochimiche e Biotecnologie Molecolari; Universitá degli Studi di Perugia, Via del Giochetto; Perugia 06126 Italy

3. Istituto Clinica Pediatrica-Policlinico ‘A. Gemelli’, Lago Gemelli; Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000010006.87571.48/fullpdf

Reference3 articles.

1. Spectrum of mutations in alpha-mannosidosis;Berg;Am J Hum Genet,1999

2. Genomic structure of the human lysosomal oc-mannosidase gene (MANB);Riise;Genomics,1997

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024

2. Alpha-Mannosidosis: Therapeutic Strategies;International Journal of Molecular Sciences;2018-05-17

3. Developmental and Inherited Liver Disease;Macsween's Pathology of the Liver;2018

4. Lysosomal alpha-mannosidase and alpha-mannosidosis;Frontiers in Bioscience;2017

5. amamutdb.no: A Relational Database forMAN2B1Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis;Human Mutation;2015-04-09

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