rs80338701
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
We have identified the PMM2 genotypes of 22 unrelated Danish patients with carbohydrate-deficient glycoprotein syndrome type 1A: R141H/F119L (18), R141H/C192G (1), F119L/F119L (1), F119L/G117R (1) and D223E/T237R (1).
|
10602363 |
1999 |
rs80338701
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
|
9140401 |
1997 |
rs80338701
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
|
9781039 |
1998 |
rs80338701
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation.
|
24498599 |
2013 |
rs80338701
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype.
|
11517108 |
2001 |
rs80338701
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).
|
11058895 |
2000 |
rs80338703
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping.
|
10571956 |
1999 |
rs80338703
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
Haplotype studies revealed a founder effect for E139K mutation, only described in France and found in seven CDG-Ia families (7.6%).
|
15844218 |
2005 |
rs80338703
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs80338703
|
|
A |
0.820 |
GeneticVariation |
CLINVAR |
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers.
|
16825284 |
2006 |
rs78290141
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104894525
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
|
10386614 |
1999 |
rs104894525
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
|
25355454 |
2015 |
rs104894525
|
|
A |
0.800 |
GeneticVariation |
CLINVAR |
PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.
|
11058896 |
2000 |
rs104894526
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104894526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
|
10386614 |
1999 |
rs104894526
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
|
21541725 |
2011 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
|
21541725 |
2011 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
PMM2 intronic branch-site mutations in CDG-Ia.
|
16376131 |
2006 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.
|
17166182 |
2007 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
|
9497260 |
1998 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
|
10386614 |
1999 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
|
12705494 |
2002 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A new insight into PMM2 mutations in the French population.
|
15844218 |
2005 |
rs104894527
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
The X-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of congenital disorder of glycosylation type 1a.
|
16540464 |
2006 |