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Differential phenotypic expression of a novel PDHA1 mutatio..:
Horga, Alejandro
;
Woodward, Catherine E.
;
Mills, Alberto
...
Human Genetics. 138 (2019) 11-12 - p. 1313-1322 , 2019
Link:
https://doi.org/10.1007/s00439-019-02075-9
RT Journal T1
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
UL https://suche.suub.uni-bremen.de/peid=cr-10.1007_s00439-019-02075-9&Exemplar=1&LAN=DE A1 Horga, Alejandro A1 Woodward, Catherine E. A1 Mills, Alberto A1 Pareés, Isabel A1 Hargreaves, Iain P. A1 Brown, Ruth M. A1 Bugiardini, Enrico A1 Brooks, Tony A1 Manole, Andreea A1 Remzova, Elena A1 Rahman, Shamima A1 Reilly, Mary M. A1 Houlden, Henry A1 Sweeney, Mary G. A1 Brown, Garry K. A1 Polke, James M. A1 Gago, Federico A1 Parton, Matthew J. A1 Pitceathly, Robert D. S. A1 Hanna, Michael G. PB Springer Science and Business Media LLC YR 2019 SN 0340-6717 SN 1432-1203 JF Human Genetics VO 138 IS 11-12 SP 1313 OP 1322 LK http://dx.doi.org/https://doi.org/10.1007/s00439-019-02075-9 DO https://doi.org/10.1007/s00439-019-02075-9 SF ELIB - SuUB Bremen
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