Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome
- Author
- WOLOSZYNEK, Jill R; ROTHBAUM, Robert J; RAWLS, Amy S; MINX, Patrick J; WILSON, Richard K; MASON, Philip J; BESSLER, Monica; LINK, Daniel C
Department of Medicine, Divisions of Oncology and Hematology, the Department of Pediatrics, Division of Pediatric Gastroenterology and Nutrition, and the Genome Sequencing Center, Washington University School of Medicine, St Louis, MO, United States - Source
Blood. 2004, Vol 104, Num 12, pp 3588-3590, 3 p ; ref : 13 ref
- ISSN
- 0006-4971
- Scientific domain
- Medical oncology; Hematology
- Publisher
- The Americain Society of Hematology, Washington, DC
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chondrodysplasie métaphysaire Gène Génétique Homme Insuffisance pancréatique exocrine Leucocyte Moelle osseuse pathologie Mutation Gène SBDS Shwachman Diamond syndrome Appareil digestif pathologie Maladie héréditaire Ostéochondrodysplasie Pancréas pathologie Système ostéoarticulaire pathologie
- Keyword (en)
- Metaphyseal chondrodysplasia Gene Genetics Human Exocrine pancreas insufficiency Leukocyte Bone marrow disease Mutation Shwachman Diamond syndrome Digestive diseases Genetic disease Osteochondrodysplasia Pancreatic disease Diseases of the osteoarticular system
- Keyword (es)
- Condrodisplasia metafisiaria Gen Genética Hombre Insuficiencia pancreática exocrina Leucocito Médula ósea patología Mutación Aparato digestivo patología Enfermedad hereditaria Osteocondrodisplasia Páncreas patología Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 16387624
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
10.1182/blood-2004-04-1516 
https://dx.doi.org/10.1182/blood-2004-04-1516
