Stephan,
Howell,
Teslovich,
Coffey,
Smith,
Bailey-Wilson,
Malechek,
Gildea,
Smith,
Gillanders,
Schleutker,
Hu,
Steingruber,
Dhami,
Robbins,
Makalowska,
Carpten,
Sood,
Mumm,
Reinbold,
Bonner,
Baffoe-Bonnie,
Bubendorf,
Heiskanen,
Kallioneimi,
Baxevanis,
Joseph,
Zucchi,
Burk,
Isaacs,
Ross,
Trent,
Boyd,
Sonoda,
Federici,
Bogomolniy,
Rhei,
Maresco,
Saigo,
Almadrones,
Barakat,
Brown,
Chi,
Curtin,
Poynor,
Hoskins,
Musio,
Selicorni,
Focarelli,
Gervasini,
Milani,
Russo,
Vezzoni,
Larizza,
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- Mutation at histidine 338 of gp91(phox) depletes FAD and affects expression of cytochrome b558 of the human NADPH oxidase. Yoshida, L.S., Saruta, F., Yoshikawa, K., Tatsuzawa, O., Tsunawaki, S. J. Biol. Chem. (1998)
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- Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. Claus, M., Maier, J., Paschke, R., Kujat, C., Stumvoll, M., Führer, D. Thyroid (2005)
- X-linked genetic factors regulate hematopoietic stem-cell kinetics in females. Christensen, K., Kristiansen, M., Hagen-Larsen, H., Skytthe, A., Bathum, L., Jeune, B., Andersen-Ranberg, K., Vaupel, J.W., Orstavik, K.H. Blood (2000)
- Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Monreal, A.W., Ferguson, B.M., Headon, D.J., Street, S.L., Overbeek, P.A., Zonana, J. Nat. Genet. (1999)
- A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Laporte, J., Hu, L.J., Kretz, C., Mandel, J.L., Kioschis, P., Coy, J.F., Klauck, S.M., Poustka, A., Dahl, N. Nat. Genet. (1996)
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