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A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome

Author
OLAUSON, Hannes1 ; KRAJISNIK, Tijana1 ; LARSSON, Charlotta1 ; LINDBERG, Bengt2 ; LARSSON, Tobias E1
[1] Department of Medical Sciences, Uppsala University Hospital, Ing.70, 3 tr, 75185 Uppsala, Sweden
[2] Department of Medicine, Malmö University Hospital, 20502 Malmö, Sweden
Source

European journal of endocrinology. 2008, Vol 158, Num 6, pp 929-934, 6 p ; ref : 24 ref

ISSN
0804-4643
Scientific domain
Endocrinology
Publisher
Portland Press, Colchester
Publication country
United Kingdom
Document type
Article
Language
English
Keyword (fr)
Elément minéral Endocrinologie Hyperostose Hyperphosphatémie Mutation faux sens Phosphore Syndrome Pathologie du système ostéoarticulaire Trouble de l'équilibre hydroélectrolytique Trouble métabolique
Keyword (en)
Inorganic element Endocrinology Hyperostosis Hyperphosphatemia Missense mutation Phosphorus Syndrome Diseases of the osteoarticular system Hydroelectrolytic balance disorder Metabolic disorder
Keyword (es)
Elemento inorgánico Endocrinología Hiperóstosis Hiperfosfatemia Mutación falso sentido Fósforo Síndrome Sistema osteoarticular patología Trastorno equilibrio hidroelectrolítico Trastorno metabolismo
Classification
Pascal
002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A28 Vertebrates: endocrinology

Pascal
002 Biological and medical sciences / 002B Medical sciences / 002B21 Endocrinopathies

Discipline
Endocrinopathies Vertebrates : endocrinology
Origin
Inist-CNRS
Database
PASCAL
INIST identifier
20435779

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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