Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Open Access

Peer-reviewed

Research Article

Rajshekhar Chatterjee,

Affiliation Department of Internal Medicine (Renal division), Washington University School of Medicine, St. Louis, Missouri, United States of America
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Mary Hoffman,

Affiliation Department of Internal Medicine (Renal division), Washington University School of Medicine, St. Louis, Missouri, United States of America
⨯
Paul Cliften,

Affiliation Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America
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Surya Seshan,

Affiliation Department of Pathology, Weill Medical College, Cornell University, New York, New York, United States of America
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Helen Liapis,

Affiliations Department of Internal Medicine (Renal division), Washington University School of Medicine, St. Louis, Missouri, United States of America, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America
⨯
Sanjay Jain

* E-mail: sjain22@wustl.edu

Affiliations Department of Internal Medicine (Renal division), Washington University School of Medicine, St. Louis, Missouri, United States of America, Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, United States of America
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Proteinuria
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Mutation detection
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Kidneys
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Deletion mutation
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Gene sequencing
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Biopsy
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Nonsense mutation
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Dideoxy DNA sequencing
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