Abstract 2564: Identification of a novel SPOP missense mutation from targeted next-generation sequencing of men with chromosome 17-q linkage.

2013 ◽  
Author(s):  
Kimberly A. Zuhlke ◽  
Anna M. Johnson ◽  
Scott A. Tomlins ◽  
Nallasivam Palanisamy ◽  
Christiane M. Robbins ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Missense Mutation ◽  
Chromosome 17 ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Dehydrated hereditary stomatocytosis with new missense mutations in PIEZO1 through the use of next-generation sequencing panel

2021 ◽  
Author(s):  
Sultan Aydin Koker ◽  
Tuba Karapınar ◽  
Paola BIANCHI ◽  
Yeşim Oymak ◽  
Elisa Fermo ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Missense Mutation ◽  
Hemolytic Anemia ◽  
Male Patient ◽  
Autoimmune Hemolytic Anemia ◽  
Missense Mutations ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

In this case study, we report an 11-year-old male patient who had jaundice, hepatosplenomegaly, and chronic mild congenital non-autoimmune hemolytic anemia. In our patient, a novel homozygous missense mutation in the PIEZO1 gene was detected using a gene-targeted Next-Generation Sequencing panel: c.3364G>A (p.Glu1122Lys), confirming the diagnosis of DHS.

A novel missense mutation in theNSDHLgene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

2015 ◽  
Vol 167 (6) ◽  
pp. 1342-1348 ◽  
Author(s):  
Egle Preiksaitiene ◽  
Alfonso Caro ◽  
Eglė Benušienė ◽  
Silvestre Oltra ◽  
Carmen Orellana ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Missense Mutation ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing
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