|
1
|
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
|
J Hum Genet
|
2010
|
2.25
|
|
2
|
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
|
Kobe J Med Sci
|
2007
|
0.96
|
|
3
|
Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy.
|
J Hum Genet
|
2007
|
0.87
|
|
4
|
Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA.
|
J Hum Genet
|
2010
|
0.85
|
|
5
|
Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
|
Pediatr Int
|
2009
|
0.85
|
|
6
|
Effect of CPS14217C>A genotype on valproic-acid-induced hyperammonemia.
|
Pediatr Int
|
2010
|
0.84
|
|
7
|
Wide ranges of serum myostatin concentrations in Duchenne muscular dystrophy patients.
|
Clin Chim Acta
|
2008
|
0.82
|
|
8
|
A Japanese child with geleophysic dysplasia caused by a novel mutation of FBN1.
|
Gene
|
2012
|
0.82
|
|
9
|
Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity.
|
Mol Vis
|
2010
|
0.80
|
|
10
|
Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene.
|
J Hum Genet
|
2009
|
0.78
|
|
11
|
Treatment of preterm infants with West syndrome: differences due to etiology.
|
Pediatr Int
|
2012
|
0.75
|