Literature DB >> 9452045

335-base deletion in the mRNA coding for a dibasic amino acid transporter-like protein (SLC3A1) isolated from a patient with cystinuria.

W L Gitomer1, B Y Reed, L A Ruml, C Y Pak.   

Abstract

Entities:  

Keywords:  NASA Discipline Regulatory Physiology; Non-NASA Center

Mesh：

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Year:  1998        PMID： 9452045     DOI： 10.1002/humu.1380110124

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  1 in total

1.  Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants.

Authors:  Pascaline Gaildrat; Said Lebbah; Abdellah Tebani; Bénédicte Sudrié-Arnaud; Isabelle Tostivint; Guillaume Bollee; Hélène Tubeuf; Thomas Charles; Aurelia Bertholet-Thomas; Alice Goldenberg; Frederic Barbey; Alexandra Martins; Pascale Saugier-Veber; Thierry Frébourg; Bertrand Knebelmann; Soumeya Bekri
Journal:  Mol Genet Genomic Med       Date:  2017-05-16       Impact factor: 2.183
  1 in total

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