Recessive grey platelet‐like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B‐p37

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Vydané v:Haematologica (Roma) Ročník 102; číslo 9; s. e375 - e378
Hlavní autori: Schulze, Harald, Schlagenhauf, Axel, Manukjan, Georgi, Beham-Schmid, Christine, Andres, Oliver, Klopocki, Eva, König, Eva-Maria, Haidl, Harald, Panzer, Simon, Althaus, Karina, Muntean, Wolfgang E., Schwinger, Wolfgang, Urban, Christian, Greinacher, Andreas, Bakchoul, Tamam, Seidel, Markus G.
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Italy Ferrata Storti Foundation 01.09.2017
Predmet:
Adult
Alternative Splicing
Blood Platelets - pathology
Erythropoiesis
Female
Humans
Loss of Function Mutation
Online Only
Pedigree
Protein Isoforms - genetics
Proto-Oncogene Proteins - genetics
Repressor Proteins - genetics
Syndrome
Thrombocytopenia
ISSN:0390-6078, 1592-8721, 1592-8721
On-line prístup:Získať plný text
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Popis
Bibliografia:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Correspondence-3
content type line 23
ObjectType-Article-4
ObjectType-Report-1
TB, MGS jointly directed this work.
HS, AS contributed equally to this work
ISSN:0390-6078
1592-8721
1592-8721
DOI:10.3324/haematol.2017.167957