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1 Ergebnisse
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A novel variant in the COL6A1 gene causing Ullrich congenit..:
Sirisena, Nirmala Dushyanthi
;
Samaranayake, U. M. Jayami Eshana
;
Neto, Osorio Lopes Abath
...
BMC Neurology. 21 (2021) 1 - p. , 2021
Link:
https://doi.org/10.1186/s12883-021-02134-7
RT Journal T1
A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report
UL https://suche.suub.uni-bremen.de/peid=cr-10.1186_s12883-021-02134-7&Exemplar=1&LAN=DE A1 Sirisena, Nirmala Dushyanthi A1 Samaranayake, U. M. Jayami Eshana A1 Neto, Osorio Lopes Abath A1 Foley, A. Reghan A1 Pathirana, B. A. P. Sajeewani A1 Neththikumara, Nilaksha A1 Paththinige, C. Sampath A1 Rathnayake, Pyara A1 Donkervoort, Sandra A1 Bönnemann, Carsten G. A1 Dissanayake, Vajira H. W. PB Springer Science and Business Media LLC YR 2021 SN 1471-2377 JF BMC Neurology VO 21 IS 1 LK http://dx.doi.org/https://doi.org/10.1186/s12883-021-02134-7 DO https://doi.org/10.1186/s12883-021-02134-7 SF ELIB - SuUB Bremen
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