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Monogenic forms of childhood obesity due to mutations in the leptin gene
Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans.
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644131/ https://www.ncbi.nlm.nih.gov/pubmed/26567097 http://dx.doi.org/10.1186/s40348-014-0003-1 |
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author | Funcke, Jan-Bernd von Schnurbein, Julia Lennerz, Belinda Lahr, Georgia Debatin, Klaus-Michael Fischer-Posovszky, Pamela Wabitsch, Martin |
author_facet | Funcke, Jan-Bernd von Schnurbein, Julia Lennerz, Belinda Lahr, Georgia Debatin, Klaus-Michael Fischer-Posovszky, Pamela Wabitsch, Martin |
author_sort | Funcke, Jan-Bernd |
collection | PubMed |
description | Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans. |
format | Online Article Text |
id | pubmed-4644131 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-46441312015-11-19 Monogenic forms of childhood obesity due to mutations in the leptin gene Funcke, Jan-Bernd von Schnurbein, Julia Lennerz, Belinda Lahr, Georgia Debatin, Klaus-Michael Fischer-Posovszky, Pamela Wabitsch, Martin Mol Cell Pediatr Review Congenital leptin deficiency is a rare autosomal recessive monogenic obesity syndrome caused by mutations in the leptin gene. This review describes the molecular and cellular characteristics of the eight distinct mutations found so far in humans. Springer Berlin Heidelberg 2014-09-04 /pmc/articles/PMC4644131/ /pubmed/26567097 http://dx.doi.org/10.1186/s40348-014-0003-1 Text en © Funcke et al. ; Licensee Springer 2014 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Funcke, Jan-Bernd von Schnurbein, Julia Lennerz, Belinda Lahr, Georgia Debatin, Klaus-Michael Fischer-Posovszky, Pamela Wabitsch, Martin Monogenic forms of childhood obesity due to mutations in the leptin gene |
title | Monogenic forms of childhood obesity due to mutations in the leptin gene |
title_full | Monogenic forms of childhood obesity due to mutations in the leptin gene |
title_fullStr | Monogenic forms of childhood obesity due to mutations in the leptin gene |
title_full_unstemmed | Monogenic forms of childhood obesity due to mutations in the leptin gene |
title_short | Monogenic forms of childhood obesity due to mutations in the leptin gene |
title_sort | monogenic forms of childhood obesity due to mutations in the leptin gene |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644131/ https://www.ncbi.nlm.nih.gov/pubmed/26567097 http://dx.doi.org/10.1186/s40348-014-0003-1 |
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