Severe congenital cutis laxa with generalized muscle hypotonia due to ATP6V1A mutations
Accepted version
Peer-reviewed
Repository URI
Repository DOI
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Description
Keywords
Journal Title
EUROPEAN JOURNAL OF HUMAN GENETICS
Conference Name
Journal ISSN
1018-4813
1476-5438
1476-5438
Volume Title
28
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Publisher DOI
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Except where otherwised noted, this item's license is described as All rights reserved
Sponsorship
MRC (MR/N027302/2)
Addenbrooke's Charitable Trust (ACT) (64/17 A)
Wellcome Trust (109915/A/15/Z)
Addenbrooke's Charitable Trust (ACT) (64/17 A)
Wellcome Trust (109915/A/15/Z)