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A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program

✍ Scribed by N. Blau; H. Ichinose; T. Nagatsu; C.W. Heizmann; F. Zacchello; A.B. Burlina


Book ID
117165049
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
402 KB
Volume
126
Category
Article
ISSN
1097-6833

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Four novel mutations are identified in the ornithine transcarbamylase (OTC) gene, in four patients with OTC deficiency (an X-linked disorder). The mutations represent three different categories: missense (Ile159Thr and Ala209Val), nonsense (Tyr167Stop), and causing inefficient splicing (G---~A in th