Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference7 articles.
1. Allopurinol-Induced Orotidinuria
2. Familial lethal inheritance of a mutated paternal gene in females causing X-linked ornithine transcarbamylase (OTC) deficiency
3. Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
4. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency
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