Identification of a Novel Recombinant Allele in Three Unrelated Italian Gaucher Patients: Implications for Prognosis and Genetic Counseling

By Filocamo M.   Bonuccelli G.   Mazzotti R.   Giona F.   Gatti R.  

Blood Cells, Molecules, and Diseases, Vol. 26, Iss. 4, 2000-08 ,pp. : 307-311

Academic Press

Access to resources Recommend Favorite

Genetic analysis of patients with leukocyte adhesion deficiency - Genomic sequencing reveals otherwise undetectable mutations

By Roos D.   Meischl C.   de Boer M.   Simsek S.   Weening R.S.   Sanal O.   Tezcan I.   Gungor T.   Law S.K.A.  

Experimental Hematology, Vol. 30, Iss. 3, 2002-03 ,pp. : 252-261

Elsevier

Access to resources Recommend Favorite

Two novel gene mutations in type i antithrombin deficiency

By Niiya Kenji   Kiguchi Toru   Dansako Hiromichi   Fujimura Kingo   Fujimoto Takahiro   Iijima Kenji   Tanimoto Mitsune   Harada Mine  

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

Springer Publishing Company

Access to resources Recommend Favorite

Mutation Prevalence among 51 Unrelated Spanish Patients with Gaucher Disease: Identification of 11 Novel Mutations

By Alfonso P.   Cenarro A.   Pérez-Calvo J.I.   Giralt M.   Giraldo P.   Pocoví M.  

Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 5, 2001-05 ,pp. : 882-891

Academic Press

Access to resources Recommend Favorite

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

Springer Publishing Company

Access to resources Recommend Favorite