MATSUO Masafumi | Division of Molecular Medicine, Department of International and Environmental Medical Science

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概要

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著作論文

Clinical Types, Molecular Genetic Diagnosis & Genetic : clinical Correlation in Patients with Spinal Muscular Atrophy
Deletion of the SMN1 and NAIP Genes in Vietnamese Patients with Spinal Muscular Atrophy
Molecular Genetic Analyses of Five Vietnamese Patients with Spinal Musucular Atrophy
Complete skipping of exon 66 due to novel mutations of the dystrophin gene was identified in two Japanese families of Duchenne muscular dystrophy with severe mental retardation
Molecular Diagnosis, Correlation of Clinical and Deletion Data in Duchenne Muscular Dystrophy
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Vietnam
DELETION OF TWENTY SEVEN NUCLEOTIDES WITHIN EXON 11 OF THE BAND 3GENE IDENTIFIED IN OVALOCYTOSIS IN LOMBOK ISLAND, INDONESIA
インドネシア東ジャワ地方の前頭骨篩骨脳瘤患者にMTHFR遺伝子のC677T変異は認められなかった
A COMPREHENSIVE METHOD TO SCAN FOR POINT MUTATIONS OF THE GLUCOSE 6 PHOSPHATE DEHYDROGENASE GENE
COMPARISON OF INSERTION RATE OF L1 RETROPOSON INTO INTRON 30 OF THE NEUROFIBROMATOSIS TYPE 1 GENE IN SEVEN ASIAN AND PACIFIC POPULATIONS
Comparative study on deletions of the dystrophin gene in three Asian populations
C TO T TRANSITION AT THE FIRST NUCLEOTIDE OF CODON 63 OF THE β-GLOBIN GENE CORRESPONDING TO HEMOGLOBIN M-SASKATOON IN AN INDONESIAN BOY
Molecular identification and characterization of a novel gene that is upregulated in obese mouse heart
Screening for glucose-6-phosphate dehydrogenase deficiency using a modified formazan method : A pilot study on Filipino male newborns
Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Malays in Malaysia
A novel cryptic exon in intron 3 of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5
Molecular genetics of spinal muscular atrophy : contribution of the NAIP gene to clinical severity
Oligonucleotides against a splicing enhancer sequence led to dystrophin production in muscle cells from a Duchenne muscular dystrophy patient
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene : a novel source of genomic instability
A simple explanation for a case of incompatibility with the reading frame theory in Duchenne muscular dystrophy: failure to detect an aberrant restriction fragment in Southern blot analysis
Ligand orientation governs conjugation capacity of UDP-glucuronosyltransferase 1A1

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