학술논문
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein
Document Type
Article
Author
Kraatari-Tiri, M.; Soikkonen, L.; Komulainen-Ebrahim, J.; Kallankari, H.; Uusimaa, J.; Rahikkala, E.; Myllykoski, M.; Jamshidi, Y.; Karimiani, E.G.; Carroll, C.J.; Mignot, C.; Depienne, C.; Keren, B.; Nougues, M.-C.; Alsahlawi, Z.; Romito, A.; Martini, J.; Tripolszki, K.; Bauer, P.; Bertoli-Avella, A.M.; Toosi, M.B.; Koivunen, P.
Source
In: Clinical Genetics . (Clinical Genetics, November 2022, 102(5):444-450)
Subject
Language
English
ISSN
13990004
00099163
00099163