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1 Ergebnisse
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An 8‐generation family with X‐linked Charcot–Marie–Tooth: C..:
Chen, Dong‐Hui
;
Ma, Maxwell
;
Scavina, Mena
...
Muscle & Nerve. 57 (2017) 5 - p. 859-862 , 2017
Link:
https://doi.org/10.1002/mus.26037
RT Journal T1
An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mus.26037&Exemplar=1&LAN=DE A1 Chen, Dong‐Hui A1 Ma, Maxwell A1 Scavina, Mena A1 Blue, Elizabeth A1 Wolff, John A1 Karna, Prasanthi A1 Dorschner, Michael O. A1 Raskind, Wendy H. A1 Bird, Thomas D. PB Wiley YR 2017 SN 0148-639X SN 1097-4598 JF Muscle & Nerve VO 57 IS 5 SP 859 OP 862 LK http://dx.doi.org/https://doi.org/10.1002/mus.26037 DO https://doi.org/10.1002/mus.26037 SF ELIB - SuUB Bremen
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