Hyperinsulinism of infancy: Novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity
- Author
- TORNOVSKY, Sharona1 ; CRANE, Ana; NAHARI, Efrat; POTIKHA, Tamara; ZANGEN, David3 ; TENENBAUM-RAKOVER, Yardena; DE VRIES, Liat; ARGENTE, Jesus; GRACIA, Ricardo; LANDAU, Heddy3 ; ELIAKIM, Alon; LINDLEY, Keith; COSGROVE, Karen E2 ; DUNNE, Mark J; AGUILAR-BRYAN, Lydia; GLASER, Benjamin; HUSSAIN, Khalid; LAVIE, Judith1 ; HEYMAN, Ayan; NESHER, Yaron; KUCHINSKI, Ama; BEN-SHUSHAN, Etti; SHATZ, Olga
Departments of Medicine and Cellular and Molecular Biology, Baylor College of Medicine, Houston, Texas 77030, United States
[1] Endocrinology and Metabolism Service, Hadassah-Hebrew University Medical School, Jerusalem 91120, Israel
[2] School of Biological Science, The University of Manchester, Manchester M13 9PT, United Kingdom
[3] Internal Medicine Department, and Department of Pediatrics, Hadassah-Hebrew University Medical School, Jerusalem 91120, Israel - Source
The Journal of clinical endocrinology and metabolism. 2004, Vol 89, Num 12, pp 6224-6234, 11 p ; ref : 46 ref
- CODEN
- JCEMAZ
- ISSN
- 0021-972X
- Scientific domain
- Endocrinology; Nutrition, obesity, metabolic disorders
- Publisher
- Endocrine Society, Bethesda, MD
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Endocrinologie Génétique Hétérogénéité Locus Mutation Nourrisson Gène KCNJ11 Homme
- Keyword (en)
- Endocrinology Genetics Heterogeneity Locus Mutation Infant Human
- Keyword (es)
- Endocrinología Genética Heterogeneidad Locus Mutación Lactante Hombre
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology
- Discipline
- Endocrinopathies Vertebrates : endocrinology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16344479
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1210/jc.2004-1233 
https://dx.doi.org/10.1210/jc.2004-1233
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