Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Itsujin Suyama"'
Publikováno v:
Journal of Human Genetics. 44:377-382
Galactokinase (GALK) deficiency is an autosomal recessive disorder, which causes cataract formation in children not maintained on a lactose-free diet. We characterized the human GALK gene by screening a Japanese genomic DNA phage library, and found t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3f23cd305835b626dc9fe1566c215f3
https://doi.org/10.1007/s100380050182
https://doi.org/10.1007/s100380050182
Autor:
Gen Isshiki, Itsujin Suyama, Minoru Asada, Yoshiyuki Okano, Hidetetsu Hirokawa, Akie Fujimoto
Publikováno v:
European journal of human genetics : EJHG. 7(7)
We identified 14 mutations in 15 Japanese subjects from 13 families with galactose-1-phosphate uridyltransferase (GALT) deficiency using denaturing gradient gel electrophoresis (DGGE) and direct sequence analysis. These mutations accounted for 22 (96
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ffa9fdd79db001115c33ebb544b510
https://pubmed.ncbi.nlm.nih.gov/10573007
https://pubmed.ncbi.nlm.nih.gov/10573007
Autor:
Gen Isshiki, Mayumi Tani, Toshiaki Oura, Itsujin Suyama, Yoshiyuki Okano, Kouichi Nishi-Mura, Masahiro Matsumura
Publikováno v:
Congenital Anomalies. 29:15-29
Sprague-Dawley rats were given L-phenylalanine intraperitoneally from the 8th to 11th day of pregnancy. The hearts of the fetuses were examined on the 21st day of pregnancy. We found that the group given the higher doses of L-phenylalanine had signif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::268b7f3f32b4e934ed891a185d0d87df
https://doi.org/10.1111/j.1741-4520.1989.tb00732.x
https://doi.org/10.1111/j.1741-4520.1989.tb00732.x