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Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity
OBJECTIVE: GH insensitivity (GHI) is caused in the majority of cases by impaired function of the GH receptor (GHR). All but one known GHR mutation are in the coding sequence or the exon/intron boundaries. We identified and characterised the first intronic defect occurring in the polypyrimidine tract...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioScientifica
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2792980/ https://ncbi.nlm.nih.gov/pubmed/19812236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-09-0583 |
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