|
rs370793608
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.
|
23430936 |
2012 |
|
rs370793608
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance.
|
23114028 |
2012 |
|
rs370793608
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
|
20848650 |
2010 |
|
rs370793608
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
|
16406649 |
2006 |
|
rs370793608
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population.
|
16406649 |
2006 |
|
rs370793608
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Hereditary fructose intolerance and celiac disease: a novel genetic association.
|
16630753 |
2006 |
|
rs370793608
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Eight novel mutations were identified in eight families with HFI: a small indel mutation (c.1044_1049delTTCTGGinsACACT), two small deletions (c.345_372del28; c.841_842delAC), two splice site mutations (c.113-1G>A, c.799+2T>A), one nonsense mutation (c.612T>G (p.Y204X)), and two missense mutations (c.532T>C (p.C178R), c.851T>C (p.L284P)).
|
15880727 |
2005 |
|
rs370793608
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Eight novel mutations were identified in eight families with HFI: a small indel mutation (c.1044_1049delTTCTGGinsACACT), two small deletions (c.345_372del28; c.841_842delAC), two splice site mutations (c.113-1G>A, c.799+2T>A), one nonsense mutation (c.612T>G (p.Y204X)), and two missense mutations (c.532T>C (p.C178R), c.851T>C (p.L284P)).
|
15880727 |
2005 |
|
rs370793608
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
DNA diagnosis of fatal fructose intolerance from archival tissue.
|
8438046 |
1993 |