Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

Arwa Z. Al-Riyami; Achille Iolascon; Shoaib Al-Zadjali; Immacolata Andolfo; Sahima Al-Mammari; Francesco Manna; Abdul Hakim Al Rawas; May Jean King; Roberta Russo

doi:10.1002/ajh.24853

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

Arwa Z. Al-Riyami, Achille Iolascon^*, Shoaib Al-Zadjali, Immacolata Andolfo, Sahima Al-Mammari, Francesco Manna, Abdul Hakim Al Rawas, May Jean King, Roberta Russo

^*Corresponding author for this work

Research output: Contribution to journal › Letter › peer-review

6 Citations (Scopus)

Original language	English
Pages (from-to)	E607-E609
Journal	American Journal of Hematology
Volume	92
Issue number	10
DOIs	https://doi.org/10.1002/ajh.24853
Publication status	Published - Oct 2017
Externally published	Yes

ASJC Scopus subject areas

Hematology

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10.1002/ajh.24853

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@article{ca4315d4acfa4aee8f2f0be43fab181b,

title = "Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis",

author = "Al-Riyami, {Arwa Z.} and Achille Iolascon and Shoaib Al-Zadjali and Immacolata Andolfo and Sahima Al-Mammari and Francesco Manna and {Al Rawas}, {Abdul Hakim} and King, {May Jean} and Roberta Russo",

note = "Funding Information: The authors acknowledge all who were involved in making the diagnosis in this family. This work was supported by grants from the Italian Ministry of University and Research, by PRIN to AI (20128PNX83), by SIR to RR (RBSI144KXC), by grants from Regione Campania (DGRC2362/07). The Local Ethics Board at the College of Medicine and Health Sciences (Sultan Qaboos University, Oman) has given approval for undertaking molecular genetics investigations on the probands and their parents. The authors declare no conflict of interest.",

year = "2017",

month = oct,

doi = "10.1002/ajh.24853",

language = "English",

volume = "92",

pages = "E607--E609",

journal = "American Journal of Hematology",

issn = "0361-8609",

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TY - JOUR

T1 - Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

AU - Al-Riyami, Arwa Z.

AU - Iolascon, Achille

AU - Al-Zadjali, Shoaib

AU - Andolfo, Immacolata

AU - Al-Mammari, Sahima

AU - Manna, Francesco

AU - Al Rawas, Abdul Hakim

AU - King, May Jean

AU - Russo, Roberta

N1 - Funding Information: The authors acknowledge all who were involved in making the diagnosis in this family. This work was supported by grants from the Italian Ministry of University and Research, by PRIN to AI (20128PNX83), by SIR to RR (RBSI144KXC), by grants from Regione Campania (DGRC2362/07). The Local Ethics Board at the College of Medicine and Health Sciences (Sultan Qaboos University, Oman) has given approval for undertaking molecular genetics investigations on the probands and their parents. The authors declare no conflict of interest.

PY - 2017/10

Y1 - 2017/10

UR - http://www.scopus.com/inward/record.url?scp=85026479982&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85026479982&partnerID=8YFLogxK

U2 - 10.1002/ajh.24853

DO - 10.1002/ajh.24853

M3 - Letter

C2 - 28699249

AN - SCOPUS:85026479982

SN - 0361-8609

VL - 92

SP - E607-E609

JO - American Journal of Hematology

JF - American Journal of Hematology

IS - 10

ER -

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis

ASJC Scopus subject areas

Access to Document

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