Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

Open Access

Peer-reviewed

Research Article

Sara L. Ma ,

Contributed equally to this work with: Sara L. Ma, Virginia Vega-Warner

Affiliation College of Literature, Science, and the Arts, University of Michigan, Ann Arbor, MI, United States of America
⨯
Virginia Vega-Warner ,

Contributed equally to this work with: Sara L. Ma, Virginia Vega-Warner

Affiliation Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, United States of America
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Christopher Gillies,

Affiliation Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, United States of America
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Matthew G. Sampson,

Affiliation Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, United States of America
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Vijay Kher,

Affiliation Kidney and Urology Institute, Medanta, The Medicity Hospital, Gurgaon, India
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Sidharth K. Sethi,

Affiliation Kidney and Urology Institute, Medanta, The Medicity Hospital, Gurgaon, India
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Edgar A. Otto

* E-mail: eotto@umich.edu

Affiliation Division of Nephrology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI, United States of America
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Mutation databases
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Mutation detection
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Frameshift mutation
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Insertion mutation
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Reverse transcriptase-polymerase chain reaction
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Mutation
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Dideoxy DNA sequencing
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Human families
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