GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

Autor:	Sri V V Deevi, Willem H. Ouwehand, Chaim Kaplinsky, Nivin Jahshan, Karina Althaus, Yossef Kalish, Rutendo Mapeta, Mortimer Poncz, Kate Downes, Esti Hi-Am, Michele P. Lambert, Shai Izraeli, Andreas Greinacher, Galia Spectre, Hagit Daum, David Varon, Shoshana Revel-Vilk, Danuta Jarocha, Ela Shai, Ernest Turro
Jazyk:	angličtina
Rok vydání:	2018
Předmět:	Genetics Mutation business.industry Kinase Immunology Cell Biology Hematology 030204 cardiovascular system & hematology medicine.disease medicine.disease_cause Biochemistry Bleeding diathesis 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine chemistry Glucosamine medicine Missense mutation medicine.symptom business Letter to Blood Wasting Gene 030217 neurology & neurosurgery
Popis:	TO THE EDITOR: We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia and mild to moderate bleeding diathesis inherited due to missense mutations in the glucosamine (UDP- N -acetyl)-2-epimerase/ N -acetylmannosamine kinase ( GNE ) gene. Previous reports have
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3da4c115a57857da7c0218cd9b1a2721 https://europepmc.org/articles/PMC6202914/ Zobrazit plný text záznamu