Alström Syndrome: Mutation Spectrum ofALMS1-Reference-Cited by-同舟云学术

Alström Syndrome: Mutation Spectrum ofALMS1

Published:2015-05-18 Issue:7 Volume:36 Page:660-668
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Marshall Jan D.¹²,Muller Jean³⁴⁵,Collin Gayle B.¹,Milan Gabriella⁶,Kingsmore Stephen F.⁷,Dinwiddie Darrell⁷⁸,Farrow Emily G.⁷,Miller Neil A.⁷,Favaretto Francesca⁶,Maffei Pietro⁶,Dollfus Hélène⁹¹⁰,Vettor Roberto⁶,Naggert Jürgen K.¹

Affiliation:

1. The Jackson Laboratory; Bar Harbor Maine

2. Alström Syndrome International; Mount Desert Maine

3. IGBMC; CNRS UMR 7104/INSERM U964/University of Strasbourg; Illkirch Cedex France

4. Laboratoire ICUBE; UMR CNRS 7357; LBGI; Université de Strasbourg; Strasbourg France

5. Laboratoire de Diagnostic Génétique; Hôpitaux Universitaires de Strasbourg; Strasbourg Cedex France

6. Department of Medicine; University of Padua; Padua Italy

7. Center for Pediatric Genomic Medicine; Children's Mercy Hospital; Kansas City Missouri

8. Department of Pediatrics; University of New Mexico; Albuquerque New Mexico

9. Laboratoire de Génétique médicale; UMR_S INSERM U1112; IGMA; Faculté de Médecine FMTS; Université de Strasbourg; Strasbourg France

10. Service de Génétique Médicale; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO); Hôpitaux Universitaires de Strasbourg; Strasbourg France

Funder

National Institutes of Health

Black & Veatch

Children's Mercy Hospital

Claire Giannini Foundation

European Union, in the framework of the Health Programme

Italian Ministry of Education, University and Research (MIUR)

Marion Merrell Dow Foundation

Pat & Gil Clements Foundation

Programme Hospitalier de Recherche Clinique National Alström 2012

U19HD077693

William T. Kemper Foundation