Medizinische Universität Graz - Research portal
Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Tomatsu, S; Nishioka, T; Montaño, AM; Gutierrez, MA; Pena, OS; Orii, KO; Sly, WS; Yamaguchi, S; Orii, T; Paschke, E; Kircher, SG; Noguchi, A.
Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
J Med Genet. 2004; 41(7):e98-e98
Doi: 10.1136/jmg.2003.018010
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- Co-authors Med Uni Graz
- Paschke Eduard
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- Find related publications in this database (using NLM MeSH Indexing)
- Adolescent -
- Child -
- Chondroitinsulfatases - genetics
- CpG Islands - genetics
- DNA - chemistry
- DNA Methylation - chemistry
- DNA Mutational Analysis - methods
- Female - methods
- Genetic Screening - methods
- Genome, Human - methods
- Humans - methods
- Male - methods
- Mucopolysaccharidoses - diagnosis
- Mutation - genetics
- Phenotype - genetics
- Polymerase Chain Reaction - methods
- Polymorphism, Single-Stranded Conformational - methods