rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
26224785
2015
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel missense MTTP gene mutations causing abetalipoproteinemia.
25108285
2014
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
20050888
2010
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
10679949
2000
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
10946006
2000
rs767833468
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.800
GeneticVariation
UNIPROT
A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase.
8939939
1996