Identification of a novel variant of epsilon-gamma-delta-beta thalassemia highlights limitations of next generation sequencing.

Authors :: Zebisch A
Schulz E
Grosso M
Lombardo B
Acierno G
Sill H
Iolascon A
Source :: American journal of hematology [Am J Hematol] 2015 Mar; Vol. 90 (3), pp. E52-4. Date of Electronic Publication: 2015 Jan 16.
Publication Year :: 2015

Subjects :: High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Multiplex Polymerase Chain Reaction
Mutation
Pedigree
Thalassemia genetics
Thalassemia pathology
Thalassemia diagnosis
beta-Globins genetics
delta-Globins genetics
epsilon-Globins genetics
gamma-Globins genetics

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