Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease-Reference-Cited by-同舟云学术

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease

Published:2018-08-09 Issue:5 Volume:94 Page:473-479
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Flusser H.¹,Halperin D.²^ORCID,Kadir R.²,Shorer Z.³,Shelef I.⁴,Birk O.S.²⁵

Affiliation:

1. Zussman Child Development Center, Division of Pediatrics, Soroka Medical Center; Ben-Gurion University of the Negev; Beer-Sheva Israel

2. The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev; Ben-Gurion University of the Negev; Beer-Sheva Israel

3. Pediatric Neurology Unit, Division of Pediatrics, Soroka Medical Center; Ben-Gurion University of the Negev; Beer-Sheva Israel

4. Department of Imaging, Soroka Medical Center; Ben-Gurion University of the Negev; Beer-Sheva Israel

5. Genetics Institute, Soroka University Medical Center; Ben-Gurion University of the Negev; Beer-Sheva Israel

Funder

The Legacy Heritage Bio-Medical program of the Israel Science Foundation and the National Knowledge Center for Rare / Orphan Diseases sponsored by the Israel ministry of Science, Technology and Space.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13419/fullpdf

Reference13 articles.

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2. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease;Pareyson;Lancet Neurol,2009

3. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3;Nakhro;Neurology,2013

4. A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13. 31-q13. 33;Bohlega;Clin Genet,2011

5. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3;Alazami;Neurology,2014

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