Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene-Reference-Cited by-同舟云学术

Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene

Published:2020-12 Issue: Volume:49 Page:102007
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Ali Eltahir,Ferraro Rosalba Monica,Lanzi Gaetana,Masneri Stefania,Piovani Giovanna,Mazzoldi Elena Laura,Serpieri Valentina,Valente Enza Maria,Giordano Lucio,Giliani Silvia Clara

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference4 articles.

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2. Joubert syndrome: congenital cerebellar ataxia with the molar tooth;Romani;Lancet Neurol.,2013

3. Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population;Srour;Am. J. Human Genet.,2012

4. Genotypes and phenotypes of Joubert syndrome and related disorders;Valente;Eur. J. Med. Genet.,2008

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