Cargando…
Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene
The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone I (GHI) gene, has been associated with reduced levels of circulating GH and insulin-like growth factor I, a reduced risk of colorectal cancer and a predisposition to oste...
Autores principales: | Millar, David S, Horan, Martin, Chuzhanova, Nadia A, Cooper, David N |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500161/ https://www.ncbi.nlm.nih.gov/pubmed/20650818 http://dx.doi.org/10.1186/1479-7364-4-5-289 |
Ejemplares similares
-
Short stature related to Growth Hormone Insensitivity (GHI) in childhood
por: Mastromauro, Concetta, et al.
Publicado: (2023) -
An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene
por: Millar, David S, et al.
Publicado: (2010) -
Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1
por: Hamby, Stephen E, et al.
Publicado: (2013) -
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease
por: Hamby, Stephen E, et al.
Publicado: (2011) -
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
por: Alkindy, Adila, et al.
Publicado: (2012)