IGHD II: A NovelGH-1Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion-Reference-Cited by-同舟云学术

IGHD II: A NovelGH-1Gene Mutation (GH-L76P) Severely Affects GH Folding, Stability, and Secretion

Published:2015-12-01 Issue:12 Volume:100 Page:E1575-E1583
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Miletta Maria Consolata¹,Eblé Andrée¹,Janner Marco¹,Parween Shaheena¹,Pandey Amit V.¹,Flück Christa E.¹,Mullis Primus-E.¹

Affiliation:

1. University Children's Hospital, Department of Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, and Department of Clinical Research, University of Bern, 3010 Bern, Switzerland

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/100/12/E1575/10421220/jcem1575.pdf

Reference43 articles.

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3. Disorder of growth hormone/insulin-like growth factor and action;Rosenfeld,2002

4. Screening for growth hormone (GH) gene splice-site mutations in sporadic cases with severe isolated GH deficiency using ectopic transcript analysis;Binder;J Clin Endocrinol Metab,1995

5. GH1 splicing is regulated by multiple enhancers whose mutation produces a dominant-negative GH isoform that can be degraded by allele-specific small interfering RNA (siRNA);Ryther;Endocrinology,2004

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