@article{oai:niigata-u.repo.nii.ac.jp:00006471,
 author = {Miyakita, Yasushi and Tsuji, Shoji and Tanaka, Hajime and Onodera, Osamu and Hozumi, Isao and Yokoyama, Akihiro and Izumi, Tohru and Shibata, Akira},
 issue = {2},
 journal = {Acta medica et biologica, Acta medica et biologica},
 month = {Jun},
 note = {Analysis was made of the α-Galactosidase A gene from two patients with Fabry disease using PCR-SSCP (Single Strand Conformation Polymorphism) analysis followed by direct nucleotide sequence analysis. Through PCR-SSCP analysis, we found that the patients' PCR products derived from the exon 7 gave aberrantly moving patterns. Direct nucleotide sequence analysis disclosed two new, previously undescribed point mutations in exon 7. One hemizygote had an A-to-C transition at codon 410 in exon 7 which substituted proline (CCA) for threonine codon (ACA). Another unrelated hemizygote had another different point mutation in exon 7. It showed T-to-C and C-to-T transitions at codon 388 substituting proline (CCT) for leucine codon (CTC). The former mutation was also found in another male member of the patient's family, and his daughter was heterozygous for this mutation. The present findings also indicate heterogeneities of molecular lesions in that there are few common mutations in Fabry disease.},
 pages = {75--81},
 title = {Identification of Point Mutations in α-Galactosidase A Gene in Patients with Fabry Disease},
 volume = {43},
 year = {1995}
}