|
rs80338831
|
|
|
0.830 |
GeneticVariation |
BEFREE |
These findings were consistent with MHA and they were identified to express the MYH9 mutation, D1424H.
|
21329637 |
2011 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
|
16969870 |
2006 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause?
|
16969870 |
2006 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Six distinct missense heterozygous mutations were found in 10 families, including six families with MHA or SBS (E1841K, D1424N), three families with FS (R702H, R1165C, and D1424Y), and one family with EPS (S96L).
|
16098078 |
2005 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
|
12533692 |
2003 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
|
12649151 |
2003 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
|
12621333 |
2003 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
|
12649151 |
2003 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations.
|
12533692 |
2003 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
|
12792306 |
2003 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
|
12649151 |
2003 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
|
12621333 |
2003 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
|
11935325 |
2002 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
|
11935325 |
2002 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Two mutations (E1841K and D1424N) have been reported elsewhere in families with May-Hegglin anomaly.
|
11752022 |
2002 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.
|
11590545 |
2001 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
|
11776386 |
2001 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
The E1841K, D1424N, and R1933X coiled-coil domain mutations were common to both MHA and FTNS.
|
11590545 |
2001 |
|
rs80338834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Haplotype analysis using three novel microsatellite markers revealed that three E1841K carriers--one with MHA and two with FTNS--shared a common haplotype around the MYH9 gene, suggesting a common ancestor.
|
11590545 |
2001 |
|
rs80338831
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
|
10973259 |
2000 |