Carrier Assessment in Families with Lowe Oculocerebrorenal Syndrome: Novel Mutations in the OCRL1 Gene and Correlation of Direct DNA Diagnosis with Ocular Examination

By Röschinger W.   Muntau A.C.   Rudolph G.   Roscher A.A.   Kammerer S.  

Molecular Genetics and Metabolism, Vol. 69, Iss. 3, 2000-03 ,pp. : 213-222

Academic Press

Access to resources Recommend Favorite

Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene

By Parvaneh Nima   Mamishi Setareh   Rezaei Amir   Rezaei Nima   Tamizifar Banafshe   Parvaneh Leila   Sherkat Roya   Ghalehbaghi Babak   Kashef Sara   Chavoshzadeh Zahra   Isaeian Anna   Ashrafi Farzaneh   Aghamohammadi Asghar  

Journal of Clinical Immunology, Vol. 30, Iss. 5, 2010-09 ,pp. : 756-760

Springer Publishing Company

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

Three New Exon 10 Glucose-6-Phosphate Dehydrogenase Mutations

By Beutler E.   Westwood B.   Melemed A.   Dal Borgo P.   Margolis D.  

Blood Cells, Molecules, and Diseases, Vol. 21, Iss. 1, 1995-04 ,pp. : 64-72

Academic Press

Access to resources Recommend Favorite

Three New Mutations in a Gene Causing Hermansky–Pudlak Syndrome: Clinical Correlations

By Shotelersuk V.   Hazelwood S.   Larson D.   Iwata F.   Kaiser-Kupfer M.I.   Kuehl E.   Bernardini I.   Gahl W.A.  

Molecular Genetics and Metabolism, Vol. 64, Iss. 2, 1998-06 ,pp. : 99-107

Academic Press

Access to resources Recommend Favorite