Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

2008 ◽  
Vol 74 (4) ◽  
pp. 349-357 ◽  
Author(s):  
A Biffi ◽  
M Cesani ◽  
F Fumagalli ◽  
U Del Carro ◽  
C Baldoli ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Metachromatic Leukodystrophy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia

2001 ◽  
Vol 9 (1) ◽  
pp. 5-12 ◽  
Author(s):  
Naomichi Matsumoto ◽  
RichardJ Leventer ◽  
JulieA Kuc ◽  
StephanieK Mewborn ◽  
Laura L Dudlicek ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Subcortical Band Heterotopia ◽  
Band Heterotopia

scholarly journals Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

2009 ◽  
Vol 30 (10) ◽  
pp. E936-E945 ◽  
Author(s):  
Martina Cesani ◽  
Alessia Capotondo ◽  
Tiziana Plati ◽  
Lucia Sergi Sergi ◽  
Francesca Fumagalli ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Gene Mutations ◽  
Arylsulfatase A ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype–phenotype correlation

2009 ◽  
Vol 54 (3) ◽  
pp. 145-151 ◽  
Author(s):  
Takanobu Otomo ◽  
Takeshi Muramatsu ◽  
Tohru Yorifuji ◽  
Torayuki Okuyama ◽  
Hiroki Nakabayashi ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Japanese Patients ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Mucolipidosis Ii ◽  
Alpha Beta
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