A splicing mutation (891+4A→G) in SLC3A1 leads to exon 4 skipping and causes cystinuria in a Moslem Arab family
Elon Pras
Department of Medicine C and the Genetic Institute, Sheba Medical Center, Tel-Hashomer, Israel 52621
Search for more papers by this authorEliyahu Golomb
Department of Pathology, Sackler Medical School, Tel-Aviv University, Tel-Aviv, Israel 69978
Search for more papers by this authorCassius Drake
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892-1820
Search for more papers by this authorIvona Aksentijevich
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892-1820
Search for more papers by this authorGiora Katz
Division of Urology, University of Florida, Gainesville, Florida 32610
Search for more papers by this authorCorresponding Author
Daniel L. Kastner
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892-1820
Arthiritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892-1820. Fax: 301-402-0012Search for more papers by this authorElon Pras
Department of Medicine C and the Genetic Institute, Sheba Medical Center, Tel-Hashomer, Israel 52621
Search for more papers by this authorEliyahu Golomb
Department of Pathology, Sackler Medical School, Tel-Aviv University, Tel-Aviv, Israel 69978
Search for more papers by this authorCassius Drake
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892-1820
Search for more papers by this authorIvona Aksentijevich
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892-1820
Search for more papers by this authorGiora Katz
Division of Urology, University of Florida, Gainesville, Florida 32610
Search for more papers by this authorCorresponding Author
Daniel L. Kastner
Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, Maryland 20892-1820
Arthiritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892-1820. Fax: 301-402-0012Search for more papers by this author
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