Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 transcript preferentially expressed from the mat...

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Detalles Bibliográficos
Autores principales: Rezwan, Faisal I, Poole, Rebecca L, Prescott, Trine, Walker, Joanna M, Karen Temple, I, Mackay, Deborah JG
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247793/
https://www.ncbi.nlm.nih.gov/pubmed/25005734
http://dx.doi.org/10.1038/ejhg.2014.133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4247793/
https://www.ncbi.nlm.nih.gov/pubmed/25005734
http://dx.doi.org/10.1038/ejhg.2014.133

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