Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

Author:

Arranz J. A.,Riudor E.,Marco-Marín C.,Rubio V.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference41 articles.

1. Antonarakis SE, Krawczak M, Cooper DN (2001) The nature and mechanisms of human gene mutation. In: Scriver CR, Beaudet Al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 343–377.

2. Bernstein HJ (2000) Recent changes to RasMol, recombining the variants. Trends Biochem Sci 25: 453–455.

3. Bhardwaj U, Zhang YH, McCabe ER (2003) Neonatal hemoglobinopathy screening: molecular genetic technologies. Mol Genet Metab 80: 129–137.

4. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In: Scriver CR, Beaudet~Al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 1909–1963.

5. Climent C, Rubio V (2002) Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency. Hum Mutat 19: 185–186.

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