Identification of PAHX, a Refsum disease gene

Author:

Mihalik Stephanie J.,Morrell James C.,Kim Do,Sacksteder Katherine A.,Watkins Paul A.,Gould Stephen J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference24 articles.

1. Steinberg, D. Refsum disease. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C. R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2351–2369 (McGraw-Hill, New York, 1995).

2. Mihalik, S.J., Rainville, A.M. & Watkins, P.A. Phytanic acid alpha-oxidation in rat liver peroxisomes: production of alpha-hydroxyphytanoyl-CoA and formate is enhanced by dioxygenase cofactors. Eur. J. Biochem. 232, 545–551 (1995).

3. Lazarow, P.B. & Moser, H.W. Disorders of peroxisome biogenesis. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C. R., Beaudet, A.L., Sly, W.S. & Valle, D.) 2287–2324 (McGraw-Hill, New York, 1995).

4. Braverman, N. et al. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nature Genet. 15, 369–376 (1997).

5. Nadal, N. et al. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum. Mol. Genet. 4, 1963–1966 (1995).

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