Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0286-x
- By:
- Publication type:
- Article
Works by Klenow, Helle Bagterp
Results: 5
1
2
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
- Published in:
- 2015
- By:
- Publication type:
- journal article
3
Identification of 83 Novel Alpha-Mannosidosis-Associated Sequence Variants: Functional Analysis of MAN2B1 Missense Mutations.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 827, doi. 10.1002/humu.23002
- By:
- Publication type:
- Article
4
amamutdb.no: A Relational Database for MAN2B1 Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis.
- Published in:
- Human Mutation, 2015, v. 36, n. 6, p. 581, doi. 10.1002/humu.22787
- By:
- Publication type:
- Article
5
Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 511, doi. 10.1002/humu.22005
- By:
- Publication type:
- Article