Literature DB >> 24824759

Cystinuria in a girl presenting with a hyperechogenic colon detected by prenatal ultrasonography and a new SLC3A1 gene mutation (p.Phe278Ser).

H Buxmann, T Eggermann, D Lorenz, A C Sewell, H Böhles, R L Schlößer, E Merz.   

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Year:  2014        PMID： 24824759     DOI： 10.1055/s-0034-1366442

Source DB:  PubMed          Journal:  Ultraschall Med        ISSN： 0172-4614            Impact factor:   6.548


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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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