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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

Charlotte L. Alston; Camilla Ceccatelli Berti; Emma L. Blakely; Monika Oláhová; Langping He; Colin J. McMahon; Simon E. Olpin; Iain P. Hargreaves; Cecilia Nolli; Robert McFarland; Paola Goffrini; Maureen J. O’Sullivan; Robert W. Taylor
Human Genetics · Vol. 134, Issue 8 · pp. 869-879 · 2015

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2015-08-01
Publication Year2015
Volume134
Issue8
Pages869-879
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-015-1568-z

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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