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Anne Erlekotte
Publications - 2
Citations - 116
Anne Erlekotte is an academic researcher. The author has contributed to research in topics: Mutant & Point mutation. The author has an hindex of 2, co-authored 2 publications receiving 106 citations.
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A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Christian Kranz,Christoph Jungeblut,Jonas Denecke,Anne Erlekotte,Christina Sohlbach,V. Debus,Hans Gerd Kehl,Erik Harms,Anna Reith,Sonja Reichel,Helfried Gröbe,Gerhard Hammersen,Ulrich Schwarzer,Thorsten Marquardt +13 more
TL;DR: Four patients who were homozygous for one of two mutations in the corresponding hDK1 gene were identified, and the mutated alleles failed to complement the temperature-sensitive phenotype of DK1-deficient yeast cells, whereas the wild-type allele restored the normal growth phenotype.
Journal ArticleDOI
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih
Torsten Stölting,Heymut Omran,Anne Erlekotte,Jonas Denecke,Janine Reunert,Thorsten Marquardt +5 more
TL;DR: Two mildly affected siblings with CDG-Ih caused by two novel mutations are described, expanding the genetic and clinical spectrum of CDG to include pseudo-gynecomastia, epicanthus, muscular hypotonia, mental retardation and ataxia.