Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.

Authors:
Andreotti G; Pedone E; Giordano A; Cubellis MV.

Journal:
Mol Genet Genomic Med

Publication Year: 2013

DOI:
10.1002/mgg3.3

PMCID:
PMC3893156

PMID:
24498599

View on PubMed View on PMC View Publisher
Journal Information

Full Title: Mol Genet Genomic Med

Abbreviation: Mol Genet Genomic Med

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"they have also both been crystallized and their structures are deposited in the proteindatabank (pdb) (2fuc 2fue 2amy 2q4r) (silvaggi et al ) (levin et al )."

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"Conflict of Interest None declared."

Evidence found in paper:

"Funding Information This study was supported by Telethon – Italy (Grant no. GGP12108) and of MIUR (PRIN 2009 Grant 2009MBHZPR_002)."

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