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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Autori principali: David, A, Miraki-Moud, F, Shaw, N J, Savage, M O, Clark, A J L, Metherell, L A
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioScientifica 2010
Soggetti:
Clinical Study
Accesso online: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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