Výsledky vyhledávání - "Ilain C. Robinson"

Growth Hormone (GH)-Releasing Hormone Increases the Expression of the Dominant-Negative GH Isoform in Cases of Isolated GH Deficiency due to GH Splice-Site Mutations

Autor: Vibor Petkovic, Andrée Eblé, Ilain C. Robinson, Primus E. Mullis, Christa E. Flück, Didier Lochmatter, Michela Godi

Publikováno v: Endocrinology

An autosomal dominant form of isolated GH deficiency (IGHD II) can result from heterozygous splice site mutations that weaken recognition of exon 3 leading to aberrant splicing of GH-1 transcripts and production of a dominant-negative 17.5-kDa GH iso

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d2c30557ea7755c797cab5f9f09f23c
https://doi.org/10.1210/en.2009-1280

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