rs199422220
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
A
0.800
CausalMutation
CLINVAR
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
rs199422220
×
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
rs199422220
×
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
rs199422221
×
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
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs199422221
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable.
10946006
2000
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013
rs199422222
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
T
0.800
CausalMutation
CLINVAR
Ileal adenocarcinoma in a mild phenotype of abetalipoproteinemia.
12630961
2003
rs199422222
×
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
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
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
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 missense MTTP gene mutations causing abetalipoproteinemia.
25108285
2014
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
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
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
26224785
2015
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
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
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
In two patients with ABL , we identified in MTTP a novel frameshift mutation (K35Ffs*37), and four novel missense mutations, namely, G264R , Y528H, R540C, and N649S.
25108285
2014
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia.
22236406
2012
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function.
26224785
2015
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia.
10679949
2000
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia.
10946006
2000
rs1367079155
×
Entrez Id:
4547
Gene Symbol:
MTTP
MTTP
Abetalipoproteinemia
0.700
GeneticVariation
UNIPROT
Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia.
23475612
2013