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1 Ergebnisse
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A novel protein truncating mutation in L2HGDH causes L-2-hy..:
Muzammal, Muhammad
;
Ali, Muhammad Zeeshan
;
Brugger, Beatrice
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/. , 2021
Link:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/
RT Journal T1
A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family
UL https://suche.suub.uni-bremen.de/peid=base-ftpubmed:oai:pubmedcentral.nih.gov:8748340&Exemplar=1&LAN=DE A1 Muzammal, Muhammad A1 Ali, Muhammad Zeeshan A1 Brugger, Beatrice A1 Blatterer, Jasmin A1 Ahmad, Safeer A1 Taj, Sundas A1 Shah, Syed Khizar A1 Khan, Saadullah A1 Enzinger, Christian A1 Petek, Erwin A1 Wagner, Klaus A1 Khan, Muzammil Ahmad A1 Windpassinger, Christian PB Springer US YR 2021 K1 Original Article JF http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/ LK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/ DO http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8748340/ SF ELIB - SuUB Bremen
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