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The gene responsible for pseudohypoparathyroidism type Ib is paternally imprinted and maps in four unrelated kindreds to chromosome 20q13.3

Hypocalcemia and hyperphosphatemia caused by parathyroid hormone (PTH)-resistance are the only discernible abnormalities in pseudohypoparathyroidism type Ib (PHP-Ib). Because mutations in the PTH/PTH-related peptide receptor, a plausible candidate gene, had been excluded previously, we conducted a g...

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Uloženo v:
Vydáno v:Proc Natl Acad Sci U S A
Hlavní autoři: Jüppner, H., Schipani, E., Bastepe, M., Cole, D. E. C., Lawson, M. L., Mannstadt, M., Hendy, G. N., Plotkin, H., Koshiyama, H., Koh, T., Crawford, J. D., Olsen, B. R., Vikkula, M.
Médium: Artigo
Jazyk:Inglês
Vydáno: National Academy of Sciences 1998
Témata:
Biological Sciences
On-line přístup:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC21720/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9751745/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.95.20.11798
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