Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome-Reference-Cited by-同舟云学术

Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome

Published:2017-10-21 Issue:12 Volume:173 Page:3132-3135
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Pekkinen Minna¹²^ORCID,Grigelioniene Giedre³,Akin Leyla⁴,Shah Krati⁵,Karaer Kadri⁶,Kurtoğlu Selim⁴,Ekbote Alka⁵,Aycan Zehra⁷,Sağsak Elif⁷,Danda Sumita⁵,Åström Eva⁸,Mäkitie Outi¹²³

Affiliation:

1. Folkhälsan Institute of Genetics; Biomedicum Helsinki; University of Helsinki; Helsinki Finland

2. Children's Hospital; University of Helsinki and Helsinki University Hospital; Helsinki Finland

3. Center for Molecular Medicine; Karolinska Institutet and Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

4. Erciyes University; Faculty of Medicine; Department of Pediatric Endocrinology; Turkey

5. Department of Clinical Genetics; Christian Medical College and Hospital Vellore; India

6. Intergen; Genetic Diagnosis Research and Application Center; Ankara Turkey

7. Dr.Sami Ulus Children's Hospital; Department of Pediatric Endocrinology; Ankara Turkey

8. Department of Woman and Child Health; Karolinska Institutet and Pediatric Neurology; Astrid Lindgren Children's Hospital at Karolinska University Hospital; Stockholm Sweden

Funder

Folkhälsan Research Foundation

Sigrid Juséliuksen Säätiö

Vetenskapsrådet

Academy of Finland

Novo Nordisk

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nature Methods,2010