Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
Author
BUYSSE, K
GILISSEN, C
MANCINI, GM
DELRÉE, P
WILLEMSEN, MA
RAMADZA, DP
CHITAYAT, D
BENNETT, C
SHERIDAN, E
LIN, YY
PEETERS, EA
TAN-SINDHUNATA, GM
de, Die-Smulders
DEVRIENDT, K
KAYSERILI, H
EL-HASHASH, OA
STEMPLE, DL
LEFEBER, DJ
van, Bokhoven
Altunoglu, UMUT
van, den
van, Beusekom
RIEMERSMA, M
PFUNDT, R
VISSERS, LE
ROSCIOLI, T
KAMSTEEG, EJ
MAYSTADT, I
van, Reeuwijk
SCHRADERS, M
BUCKLEY, MF
BRUNNER, HG
GRISART, B
ZHOU, H
VELTMAN, JA
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- Makale [92796]