Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis

BACKGROUND: Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant patient morbidity. We previously demonstrated a genetic cause of NL can be identified in 11–29% of pre-dominantly American and European stone formers. Pakistan, which resides within the Afro-Asian stone bel...

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Pubblicato in:Hum Genet
Autori principali: Amar, Ali, Majmundar, Amar J., Ullah, Ihsan, Afzal, Ayesha, Braun, Daniela A., Shril, Shirlee, Daga, Ankana, Jobst-Schwan, Tilman, Ahmad, Mumtaz, Sayer, John A., Gee, Heon Yung, Halbritter, Jan, Knoepfel, Thomas, Hernando, Nati, Werner, Andreas, Wagner, Carsten, Khaliq, Shagufta, Hildebrandt, Friedhelm
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6426152/
https://ncbi.nlm.nih.gov/pubmed/30778725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-019-01978-x
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