Condition: alpha-Mannosidosis
rs1008745697 in
MAN2B1 gene and
alpha-Mannosidosis
PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
PMID 21505070 2011 Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.
PMID 17979865 2007 Early onset alpha-mannosidosis with slow progression in three Hispanic males.
PMID 9915946 1999 Spectrum of mutations in alpha-mannosidosis.
PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
PMID 19958498 2009 A multi-species comparative structural bioinformatics analysis of inherited mutations in alpha-D-mannosidase reveals strong genotype-phenotype correlation.
PMID 12718372 2003 Alpha-mannosidosis and mutational analysis in a Turkish patient.
PMID 21368911 2011 Clinical utility gene card for: α-mannosidosis.
PMID 15712269 2005 Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
PMID 9158146 1997 alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
PMID 15035660 2004 Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.
PMID 20165920 2010 The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
PMID 11959458 2002 alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis.
PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
PMID 23613340 2013 Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis.
PMID 12634058 2003 The structure of bovine lysosomal alpha-mannosidase suggests a novel mechanism for low-pH activation.
PMID 1472354 1992 Phenotypic variability of mannosidosis type II: report of two Greek siblings.
PMID 15712269 2005 Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D).
rs1555710070 in
MAN2B1;WDR83 gene and
alpha-Mannosidosis
PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
PMID 12718372 2003 Alpha-mannosidosis and mutational analysis in a Turkish patient.
PMID 15712269 2005 Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
PMID 21368911 2011 Clinical utility gene card for: α-mannosidosis.
PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
PMID 9158146 1997 alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
PMID 9915946 1999 Spectrum of mutations in alpha-mannosidosis.
PMID 15712269 2005 Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D).
rs1429239930 in
WDR83;MAN2B1 gene and
alpha-Mannosidosis
PMID 15712269 2005 Mutation analysis performed on six Italian families with alpha-mannosidosis type II allowed the identification of five new mutations in the MAN2B1 gene: c.157G>T, c.562C>T, c.599A>T, c.293dupA, c.2402G>A (p.E53X, p.R188X, p.H200L, p.Y99VfsX61, p.G801D).
PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.
PMID 21368911 2011 Clinical utility gene card for: α-mannosidosis.
PMID 12718372 2003 Alpha-mannosidosis and mutational analysis in a Turkish patient.
PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.
PMID 9158146 1997 alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
PMID 15712269 2005 Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis.
PMID 9915946 1999 Spectrum of mutations in alpha-mannosidosis.
PMID 25762455 2015 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.
PMID 21505070 2011 Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.