Category: Case Report

First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation

P.S. Kedar, S. Nampoothiri, S. Sreedhar, K. Ghosh, K. Shimizu, H. Kanno and R.B. ColahPublished June 30, 2007Genet. Mol. Res. 6 (2): 470-475 (2007) About the AuthorsP.S. Kedar, S. Nampoothiri, S. Sreedhar, K. Ghosh, K. Shimizu, H. Kanno and R.B. Colah Corresponding authorR.B. ColahE-mail: colahrb@gmail.com ABSTRACT Pyruvate kinase (PK) deficiency is a rare red cell […]

Molecular cytogenetic analysis of a ring-Y infertile male patient

F.M. Carvalho, E.V. Wolfgramm, I. Degasperi, B.M. Verbeno, B.A. Vianna, F.F. Chagas, F. Paula, I.D. Louro, A. M.S. Perroni Published: March 09, 2007 Genet. Mol. Res. 6 (1) : 59-66   Cite this Article: F.M. Carvalho, E.V. Wolfgramm, I. Degasperi, B.M. Verbeno, B.A. Vianna, F.F. Chagas, F. Paula, I.D. Louro, A.M.S. Perroni (2007). Molecular cytogenetic analysis of […]

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