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1
Whole Exome Sequencing Reveals Compound Heterozygosity for ..:
Jacobsen, Jessie C.
;
Glamuzina, Emma
;
Taylor, Juliet
...
Case Reports in Genetics. 2015 (2015) - p. 1-4 , 2015
Link:
https://doi.org/10.1155/2015/454526
RT Journal T1
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1
UL https://suche.suub.uni-bremen.de/peid=cr-10.1155_2015_454526&Exemplar=1&LAN=DE A1 Jacobsen, Jessie C. A1 Glamuzina, Emma A1 Taylor, Juliet A1 Swan, Brendan A1 Handisides, Shona A1 Wilson, Callum A1 Fietz, Michael A1 van Dijk, Tessa A1 Appelhof, Bart A1 Hill, Rosamund A1 Marks, Rosemary A1 Love, Donald R. A1 Robertson, Stephen P. A1 Snell, Russell G. A1 Lehnert, Klaus PB Wiley YR 2015 SN 2090-6544 SN 2090-6552 JF Case Reports in Genetics VO 2015 SP 1 OP 4 LK http://dx.doi.org/https://doi.org/10.1155/2015/454526 DO https://doi.org/10.1155/2015/454526 SF ELIB - SuUB Bremen
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