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Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
Li, Dong; Streeten, Elizabeth A; Chan, Alice; Lwin, Wint; Tian, Lifeng; Pellegrino da Silva, Renata; Kim, Cecilia E; Anderson, Mark S; Hakonarson, Hakon; Levine, Michael A.
Affiliation
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
  • Streeten EA; Division of Endocrinology, University of Maryland School of Medicine, Baltimore, Maryland 21201.
  • Chan A; Division of Diabetes, University of Maryland School of Medicine, Baltimore, Maryland 21201.
  • Lwin W; Division of Nutrition and Genetics, University of Maryland School of Medicine, Baltimore, Maryland 21201.
  • Tian L; Department of Pediatrics, University of California-San Francisco, San Francisco, California 94143.
  • Pellegrino da Silva R; Diabetes Center, University of California-San Francisco, San Francisco, California 94143.
  • Kim CE; Department of Medicine, University of California-San Francisco, San Francisco, California 94143.
  • Anderson MS; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
  • Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
  • Levine MA; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.
J Clin Endocrinol Metab ; 102(5): 1726-1733, 2017 05 01.
Article in En | MEDLINE | ID: mdl-28323927
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Primary Ovarian Insufficiency / Hypoparathyroidism Type of study: Prognostic_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: J Clin Endocrinol Metab Year: 2017 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Transcription Factors / Primary Ovarian Insufficiency / Hypoparathyroidism Type of study: Prognostic_studies Limits: Female / Humans / Male / Middle aged Language: En Journal: J Clin Endocrinol Metab Year: 2017 Document type: Article