TY - JOUR
T1 - Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency
AU - Matsuda, Ichiro
AU - Hata, Akira
AU - Matsuura, Toshinobu
AU - Tsuzuki, Teruhisa
AU - Shimada, Kazunori
N1 - Funding Information:
This work has been supportedb y Grants from the Ministry of Health and Welfare,t he Ministry of Education,S ciencea nd Culture of Japan (62304042)a nd a Grant-in-Aid from the Japan Medical Association( I.M.).
PY - 1989/12/15
Y1 - 1989/12/15
N2 - Complementary and genomic DNA clones corresponding to human ornithine transcarbamylase (OTC) have been isolated and analyzed. Restriction fragment length polymorphisms (RFCPs) on OTC gene locus were analyzed in Japanese female population. Based on these data, a prenatal diagnosis of OTC deficiency was carried out in a risk family. A C-to-T substitution was found in exon 5 of OTC gene is an another femal patient.
AB - Complementary and genomic DNA clones corresponding to human ornithine transcarbamylase (OTC) have been isolated and analyzed. Restriction fragment length polymorphisms (RFCPs) on OTC gene locus were analyzed in Japanese female population. Based on these data, a prenatal diagnosis of OTC deficiency was carried out in a risk family. A C-to-T substitution was found in exon 5 of OTC gene is an another femal patient.
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U2 - 10.1016/0009-8981(89)90218-0
DO - 10.1016/0009-8981(89)90218-0
M3 - Article
C2 - 2575934
AN - SCOPUS:0024820142
SN - 0009-8981
VL - 185
SP - 283
EP - 289
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
IS - 3
ER -