rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
|
12034785 |
2002 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Cerebral proton magnetic resonance spectroscopy in infantile Alexander disease.
|
12638020 |
2003 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation.
|
11567214 |
2001 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients.
|
12368989 |
2002 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
The R239 mutation (R239C, R239H) tends to cause comparatively more severe conditions among the GFAP mutations.In this study. we examined a long-term survival case of a patient (age 25 years, 7 months) with infantile Alexander disease with an R239C mutation confirmed by DNA analysis.
|
15675360 |
2005 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Focal central white matter lesions in Alexander disease.
|
21572052 |
2011 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
He was a heterozygote of the Arg239Cys mutation of the glial fibrillary acidic protein gene and was diagnosed with Alexander's disease.
|
12026242 |
2002 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
|
11138011 |
2001 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L.
|
12581808 |
2003 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
|
15732097 |
2005 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Unusual variants of Alexander's disease.
|
15732098 |
2005 |
rs58064122
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.
|
21533827 |
2011 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
The fact that a R416W mutation causes various types of AD suggests that clinical severities of AD are due not only to the different sites and nature of mutations in GFAP, but also to other modifying factor(s).
|
14550921 |
2003 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
|
17894839 |
2007 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
|
18684770 |
2008 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
The child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP) gene that causes Alexander disease.
|
24742911 |
2014 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord.
|
16505300 |
2006 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients.
|
12034785 |
2002 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
|
15732097 |
2005 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
We report on a pedigree of dominantly-inherited, adult-onset Alexander disease caused by the glial fibrillary acidic protein (GFAP) gene mutation, R416W.
|
15390001 |
2004 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Can MR imaging diagnose adult-onset Alexander disease?
|
18388212 |
2008 |
rs121909717
|
|
A |
0.830 |
CausalMutation |
CLINVAR |
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease.
|
11138011 |
2001 |
rs59565950
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.
|
17894839 |
2007 |
rs59565950
|
|
A |
0.820 |
CausalMutation |
CLINVAR |
Serial MRI changes in a patient with infantile Alexander disease and prolonged survival.
|
21041050 |
2011 |
rs59565950
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.
|
15732097 |
2005 |