Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families - Concepedia

Concepedia

Publication | Closed Access

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

12

Citations

16

References

2016

Year

Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo‐Graovac, Nisha Patel, Melanie Walter, Albena Jordanova, Majid Alfadhel, Ivo Barić, Mahmut Çöker, Aynur Damli-Huber,

Molecular Genetics and Metabolism

New MutationsAllelic VariantGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyRenal PathologyPathologyPyroglutamic AciduriaMolecular GeneticsBi-allelic Oplah MutationsMedicineNephrology

References

	Year	Citations

Page 1

Page 1