Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification (erythrocytes/bone resorption/parathyroid hormone/isozymes/heterozygote detection)
- Author
- SLY, W. S; HEWETT-EMMETT, D; WHYTE, M. P; YU, Y.-S; TASHIAN, R. E
Washington univ. school medicine - Source
Proceedings of the National Academy of Sciences of the United States of America. Biological sciences. 1983, Vol 80, Num 2, pp 2752-2756 ; ref : 52 ref
- ISSN
- 0273-1134
- Document type
- Article
- Language
- English
- Keyword (fr)
- Acidose Déficit Elément minéral Homme Métabolisme pathologie Parathormone Rein
- Keyword (en)
- Acidosis Deficiency Inorganic element Human Metabolic diseases Parathormone Kidney
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D05 Miscellaneous hereditary metabolic disorders
- Discipline
- Metabolic diseases
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 9346453
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
10.1073/pnas.80.9.2752 
https://dx.doi.org/10.1073/pnas.80.9.2752
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