First reported duplication of the entire beta globin gene cluster causing an unusual sickle cell trait phenotype.
about
Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters.Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis.
P2860
First reported duplication of the entire beta globin gene cluster causing an unusual sickle cell trait phenotype.
description
2014 nî lūn-bûn
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name
First reported duplication of ...... l sickle cell trait phenotype.
@en
First reported duplication of ...... l sickle cell trait phenotype.
@nl
type
label
First reported duplication of ...... l sickle cell trait phenotype.
@en
First reported duplication of ...... l sickle cell trait phenotype.
@nl
prefLabel
First reported duplication of ...... l sickle cell trait phenotype.
@en
First reported duplication of ...... l sickle cell trait phenotype.
@nl
P2093
P2860
P356
P1476
First reported duplication of ...... l sickle cell trait phenotype.
@en
P2093
Barnaby Clark
Claire Shooter
Matthew Oakley
Tania Senior McKenzie
Tracey Jacques
P2860
P304
P356
10.1111/BJH.13274
P407
P577
2014-12-18T00:00:00Z