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International Journal of Hematology, Vol. 74, Iss. 4, 2001-12 ,pp. : 469-472

Springer Publishing Company

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Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCC) in St. Petersburg Familial Hypercholesterolemia

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Molecular Genetics and Metabolism, Vol. 65, Iss. 4, 1998-12 ,pp. : 311-314

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Mutations of the ACTH Receptor Gene in a New Family with Isolated Glucocorticoid Deficiency

By Tsigos C.   Tsiotra P.   Garibaldi L.R.   Stavridis J.C.   Chrousos G.P.   Raptis S.A.  

Molecular Genetics and Metabolism, Vol. 71, Iss. 4, 2000-12 ,pp. : 646-650

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Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

By Guimaraes C.P.   Lemos M.   Sa´-Miranda C.   Azevedo J.E.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 1, 2002-05 ,pp. : 62-67

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Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott–Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations

By Lee Wen-I   Huang Jing-Long   Jaing Tang-Her   Wu Kang-Hsi   Chien Yin-Hsiu   Chang Kuei-Wen  

Journal of Clinical Immunology, Vol. 30, Iss. 4, 2010-07 ,pp. : 593-601

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