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Identification of a novel splice site HSPG2 mutation and pr..:
Das Bhowmik, Aneek
;
Dalal, Ashwin
;
Matta, Divya
...
Neuromuscular Disorders. 26 (2016) 11 - p. 809-814 , 2016
Link:
https://doi.org/10.1016/j.nmd.2016.07.004
RT Journal T1
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.nmd.2016.07.004&Exemplar=1&LAN=DE A1 Das Bhowmik, Aneek A1 Dalal, Ashwin A1 Matta, Divya A1 Kandadai, Rukmini M. A1 Kanikannan, Meena A. A1 Aggarwal, Shagun PB Elsevier BV YR 2016 SN 0960-8966 JF Neuromuscular Disorders VO 26 IS 11 SP 809 OP 814 LK http://dx.doi.org/https://doi.org/10.1016/j.nmd.2016.07.004 DO https://doi.org/10.1016/j.nmd.2016.07.004 SF ELIB - SuUB Bremen
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