Literature DB >> 27082236

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, Bassam R Ali, Lihadh Al-Gazali.   

Abstract

[This corrects the article DOI: 10.1038/hgv.2014.20.].

Entities:  

Year:  2015        PMID： 27082236      PMCID： PMC4785561          DOI： 10.1038/hgv.2015.1

Source DB:  PubMed          Journal:  Hum Genome Var        ISSN： 2054-345X


  2 in total

1.  When is biopsy-proven TIN not simply TIN? Answers.

Authors:  Nicholas Ware; Neil J Sebire; W K Chong; Rajesh Krishnan; Stephen D Marks
Journal:  Pediatr Nephrol       Date:  2016-10-07       Impact factor: 3.714

2.  Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.

Authors:  Miguel Barroso-Gil; Eric Olinger; Simon A Ramsbottom; Elisa Molinari; Colin G Miles; John A Sayer
Journal:  Mol Genet Genomic Med       Date:  2021-01-24       Impact factor: 2.473
  2 in total

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