A Novel Mutation inRPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia-Reference-Cited by-同舟云学术

A Novel Mutation inRPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

Published:2015-09-14 Issue:12 Volume:36 Page:1155-1158
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zanni Ginevra¹,Kalscheuer Vera M.²,Friedrich Andreas³,Barresi Sabina¹,Alfieri Paolo⁴,Di Capua Matteo⁵,Haas Stefan A.⁶,Piccini Giorgia⁴,Karl Thomas³,Klauck Sabine M.⁷,Bellacchio Emanuele⁸,Emma Francesco⁹,Cappa Marco¹⁰,Bertini Enrico¹,Breitenbach-Koller Lore³

Affiliation:

1. Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences; Bambino Gesù Children's Hospital, IRRCS; Rome Italy

2. Department of Human Molecular Genetics; Max Planck Institute for Molecular Genetics; Berlin Germany

3. Department of Cell Biology; University of Salzburg; Salzburg Austria

4. Unit of Child Neuropsychiatry, Department of Neurosciences; Bambino Gesù Children's Hospital, IRRCS; Rome Italy

5. Unit of Neurology, Department of Neurosciences; Bambino Gesù Children's Hospital, IRRCS; Rome Italy

6. Department of Computational Molecular Biology; Max Planck Institute for Molecular Genetics; Berlin Germany

7. Division of Molecular Genome Analysis; German Cancer Research Center (DKFZ); Heidelberg Germany

8. Research Laboratories; Bambino Gesù Children's Hospital, IRRCS; Rome Italy

9. Unit of Nephrology, Department of Pediatrics; Bambino Gesù Children's Hospital, IRRCS; Rome Italy

10. Unit of Clinical Endocrinology, Department of Pediatrics; Bambino Gesù Children's Hospital, IRRCS; Rome Italy

Funder

GENCODYS

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

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3. Protein signatures of oxidative stress response in a patient specific cell line model for autism;Chiocchetti;Mol Autism,2014

4. Nuclear export of 60s ribosomal subunits depends on Xpo1p and requires a nuclear export sequence-containing factor, Nmd3p, that associates with the large subunit protein Rpl10p;Gadal;Mol Cell Biol,2001

5. Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda;Gedeon;Nat Genet,1999

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