Skip to Main content Skip to Navigation
Journal articles

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

Document type :
Journal articles
Complete list of metadatas

https://hal-normandie-univ.archives-ouvertes.fr/hal-02336138
Contributor : Alexandra Martins <>
Submitted on : Monday, October 28, 2019 - 4:36:13 PM
Last modification on : Wednesday, August 19, 2020 - 11:18:46 AM

Links full text

Identifiers

Collections

Citation

Pascaline Gaildrat, Saïd Lebbah, Abdellah Tebani, Bénédicte Sudrié-Arnaud, Isabelle Tostivint, et al.. Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variants. Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2017, 5 (4), pp.373-389. ⟨10.1002/mgg3.294⟩. ⟨hal-02336138⟩

Share

Metrics

Record views

48