A Recurrent Signal Peptide Mutation in the Growth Hormone Releasing Hormone Receptor with Defective Translocation to the Cell Surface and Isolated Growth Hormone Deficiency-Reference-Cited by-同舟云学术

A Recurrent Signal Peptide Mutation in the Growth Hormone Releasing Hormone Receptor with Defective Translocation to the Cell Surface and Isolated Growth Hormone Deficiency

Published:2009-10-01 Issue:10 Volume:94 Page:3939-3947
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Godi Michela¹,Mellone Simona¹,Petri Antonella²,Arrigo Teresa³,Bardelli Claudio⁴,Corrado Lucia¹,Bellone Simonetta²,Prodam Flavia²,Momigliano-Richiardi Patricia¹,Bona Gianni²,Giordano Mara¹

Affiliation:

1. Laboratory of Human Genetics, Department of Medical Sciences and Interdisciplinary Research Center of Autoimmune Diseases (M.Go., S.M., L.C., P.M.-R., M.Gi.), University of Eastern Piedmont, 28100 Novara, Italy

2. Unit of Pediatrics, Department of Medical Sciences (A.P., S.B., F.P., G.B.), University of Eastern Piedmont, 28100 Novara, Italy

3. Department of Pediatrics (T.A.), University of Messina, 98100 Messina, Italy

4. Laboratory of Pharmacology (C.B.), Department of Medical Sciences, University of Eastern Piedmont, 28100 Novara, Italy

Publisher

The Endocrine Society

Subject

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

Link

http://academic.oup.com/jcem/article-pdf/94/10/3939/9059901/jcem3939.pdf

Reference36 articles.

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3. Growth hormone-releasing hormone: synthesis and signaling.;Mayo;Rec Prog Horm Res,1995

4. Three new mutations in the gene for growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB.;Salvatori;J Clin Endocrinol Metab,2001

5. Isolated growth hormone (GH) deficiency due to compound heterozygosity for two new mutations in the GH-releasing hormone receptor gene.;Salvatori;Clin Endocrinol (Oxf),2001

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