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

^*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلة › Letter › مراجعة النظراء

8 اقتباسات (Scopus)

اللغة الأصلية	English
الصفحات (من إلى)	E607-E609
دورية	American Journal of Hematology
مستوى الصوت	92
رقم الإصدار	10
المعرِّفات الرقمية للأشياء	https://doi.org/10.1002/ajh.24853
حالة النشر	Published - أكتوبر 2017

ASJC Scopus subject areas

???subjectarea.asjc.2700.2720???

الوصول إلى المستند

10.1002/ajh.24853

الملفات والروابط الأخرى

قم بذكر هذا

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis. / Al-Riyami, Arwa Z.; Iolascon, Achille; Al-Zadjali, Shoaib وآخرون.
في: American Journal of Hematology, المجلد 92, رقم 10, ١٠.٢٠١٧, صفحة E607-E609.

نتاج البحث: المساهمة في مجلة › Letter › مراجعة النظراء

Al-Riyami, AZ, Iolascon, A, Al-Zadjali, S, Andolfo, I, Al-Mammari, S, Manna, F, Al Rawas, AH, King, MJ & Russo, R 2017, 'Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis', American Journal of Hematology, المجلد 92, رقم 10, الصفحات E607-E609. https://doi.org/10.1002/ajh.24853

@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",

publisher = "Wiley-Liss Inc.",

number = "10",

}

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 -