Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221SerFLVCR1mutation-Reference-Cited by-同舟云学术

Posterior column ataxia with retinitis pigmentosa coexisting with sensory-autonomic neuropathy and leukemia due to the homozygous p.Pro221SerFLVCR1mutation

Published:2017-08-02 Issue:7 Volume:174 Page:732-739
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Castori Marco¹,Morlino Silvia²,Ungelenk Martin³,Pareyson Davide⁴,Salsano Ettore⁴,Grammatico Paola²,Tolosano Emanuela⁵,Kurth Ingo⁶,Chiabrando Deborah⁵^ORCID

Affiliation:

1. UOC Genetica Medica; IRCCS-Casa Sollievo della Sofferenza; San Giovanni Rotondo (Foggia) Italy

2. Division/Laboratory of Medical Genetics; Department of Molecular Medicine; San Camillo-Forlanini Hospital; Sapienza University; Rome Italy

3. Institute of Human Genetics; Jena University Hospital; Friedrich-Schiller-University Jena; Jena Germany

4. Department of Clinical Neurosciences; IRCCS Foundation C. Besta Neurological Institute; Neurological Rare Diseases of Adulthood Unit; Milan Italy

5. Department of Molecular Biotechnology and Health Sciences; Molecular Biotechnology Center; University of Torino; Torino Italy

6. Medical Faculty; Institute of Human Genetics; RWTH Aachen University; Aachen Germany

Funder

Fondazione Telethon

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Reference25 articles.

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3. The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation;Chiabrando;The Journal of Clinical Investigation,2012

4. Heme in pathophysiology: A matter of scavenging, metabolism and trafficking across cell membranes;Chiabrando;Frontiers in Pharmacol,2014

5. Coordinate expression of heme and globin is essential for effective erythropoiesis;Doty;The Journal of Clinical Investigation,2015

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