Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families

Author:

Tuchman Mendel,Plante Robert J.,García-Pérez Miguel Angel,Rubio Vicente

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. Brusilow SW, Horwich AL (1995) Urea cycle enzymes. In: Scriver R, Beaudet AL, Sly WS, Valle D (eds) The molecular and metabolic bases of inherited disease. McGraw-Hill, New York, pp 1187–1232

2. Copper DN, Krawczak M, Antonarakis SE (1995) The nature and mechanisms of human mutation. In: Scriver R, Beaudet AL, Sly WS, Valle D (eds) The molecular and metabolic bases of inherited disease. McGraw-Hill, New York, pp 259–291

3. Driscoll DJ, Migeon BR (1990) Sex difference in methylation of single copy genes in human meiotic germ cells: implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations. Somat Cell Mol Genet 16:267–282

4. García-Pérez MA, Sanjurio P, Rubio V (1995) Demonstration of thespf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity. Hum Genet 95: 183–186

5. Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I (1988) Structure of the human ornithine transcarbamylase gene. J Biochem 103:302–308

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