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1 Ergebnisse
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The KLHL40 c.1516A>C is a Chinese‐specific founder mutation..:
Yeung, Kit San
;
Yu, Florrie N. Y.
;
Fung, Cheuk Wing
...
Molecular Genetics & Genomic Medicine. 8 (2020) 7 - p. , 2020
Link:
https://doi.org/10.1002/mgg3.1229
RT Journal T1
The KLHL40 c.1516A>C is a Chinese‐specific founder mutation causing nemaline myopathy 8: Report of six patients with pre‐ and postnatal phenotypes
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_mgg3.1229&Exemplar=1&LAN=DE A1 Yeung, Kit San A1 Yu, Florrie N. Y. A1 Fung, Cheuk Wing A1 Wong, Sheila A1 Lee, Hencher H. C. A1 Fung, Sharon T. H. A1 Fung, Genevieve P. G. A1 Leung, Kwok Yin A1 Chung, Wai Hang A1 Lee, Yun Ting A1 Ng, Vivian K. S. A1 Yu, Mullin H. C. A1 Fung, Jasmine L. F. A1 Tsang, Mandy H. Y. A1 Chan, Kelvin Y. K. A1 Chan, Sophelia H. S. A1 Kan, Anita S. Y. A1 Chung, Brian H. Y. PB Wiley YR 2020 SN 2324-9269 SN 2324-9269 JF Molecular Genetics & Genomic Medicine VO 8 IS 7 LK http://dx.doi.org/https://doi.org/10.1002/mgg3.1229 DO https://doi.org/10.1002/mgg3.1229 SF ELIB - SuUB Bremen
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