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Isolated growth hormone deficiency type II caused by a point mutation that alters both splice site strength and splicing enhancer function
A heterozygous single base mutation in the human growth hormone (GH) gene (GH-1) was identified in a family presenting with isolated GH deficiency type II (IGHD II). Affected individuals have a guanine to adenine transition at the first nucleotide of exon 3 (E3+1 G→A) that results in exon skipping a...
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| Pubblicato in: | Clin Genet |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2008
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4445398/ https://ncbi.nlm.nih.gov/pubmed/18554279 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2008.01042.x |
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