rs79717168
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
|
16329100 |
2006 |
rs79717168
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
|
8609217 |
1996 |
rs79717168
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
|
14724820 |
2003 |
rs79717168
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
|
11340066 |
2001 |
rs79717168
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
|
10903344 |
2000 |
rs267607049
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
|
14724820 |
2003 |
rs267607049
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
|
10903344 |
2000 |
rs267607049
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
|
11340066 |
2001 |
rs267607049
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
|
16329100 |
2006 |
rs267607049
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
|
8609217 |
1996 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Four mutations in the SI gene are responsible for the majority of clinical symptoms of CSID.
|
23103650 |
2012 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
We sequenced <i>SI</i> exons in seven familial cases, and screened four CSID mutations (p.Val557Gly, p.Gly1073Asp, p.Arg1124Ter and p.Phe1745Cys) and a common <i>SI</i> coding polymorphism (p.Val15Phe) in a multicentre cohort of 1887 cases and controls.
|
27872184 |
2018 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme.
|
10903344 |
2000 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency.
|
19121318 |
2009 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum.
|
14724820 |
2003 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
|
16329100 |
2006 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
|
11340066 |
2001 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
|
8609217 |
1996 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
|
16329100 |
2006 |
rs121912616
|
|
Sucrase-isomaltase deficiency, congenital
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Use of the Biphasic (13)C-Sucrose/Glucose Breath Test to Assess Sucrose Maldigestion in Adults with Functional Bowel Disorders.
|
27579322 |
2016 |
rs121912615
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment.
|
8609217 |
1996 |
rs121912615
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder.
|
11340066 |
2001 |
rs121912615
|
|
Sucrase-isomaltase deficiency, congenital
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
|
16329100 |
2006 |
rs121912615
|
|
Sucrase-isomaltase deficiency, congenital
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption.
|
16329100 |
2006 |
rs121912615
|
|
Sucrase-isomaltase deficiency, congenital
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
The novel compound heterozygote V577G/C1531W SI mutations lead to lack of SI expression in the duodenal brush border, confirming the diagnosis of CSID.
|
27749612 |
2017 |