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A recurrent missense variant inSLC9A7causes nonsyndromic X-..:
Khayat, Wujood
;
Hackett, Anna
;
Shaw, Marie
...
Human Molecular Genetics. 28 (2018) 4 - p. 598-614 , 2018
Link:
https://doi.org/10.1093/hmg/ddy371
RT Journal T1
A recurrent missense variant inSLC9A7causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation
UL https://suche.suub.uni-bremen.de/peid=cr-10.1093_hmg_ddy371&Exemplar=1&LAN=DE A1 Khayat, Wujood A1 Hackett, Anna A1 Shaw, Marie A1 Ilie, Alina A1 Dudding-Byth, Tracy A1 Kalscheuer, Vera M A1 Christie, Louise A1 Corbett, Mark A A1 Juusola, Jane A1 Friend, Kathryn L A1 Kirmse, Brian M A1 Gecz, Jozef A1 Field, Michael A1 Orlowski, John PB Oxford University Press (OUP) YR 2018 SN 0964-6906 SN 1460-2083 JF Human Molecular Genetics VO 28 IS 4 SP 598 OP 614 LK http://dx.doi.org/https://doi.org/10.1093/hmg/ddy371 DO https://doi.org/10.1093/hmg/ddy371 SF ELIB - SuUB Bremen
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