A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Çiğdem Seher Kasapkara; Leyla Tümer; Allison Gregory; Fatih Ezgü; Aslı İnci; Betül Emine Derinkuyu; Rachel Fox; Caleb Rogers; Susan Hayflick

doi:10.1007/s13760-018-1026-5

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

Çiğdem Seher Kasapkara, Leyla Tümer, Allison Gregory, Fatih Ezgü, Aslı İnci, Betül Emine Derinkuyu, Rachel Fox, Caleb Rogers, Susan Hayflick

Molecular and Medical Genetics

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

6 Scopus citations

Original language	English (US)
Pages (from-to)	623-625
Number of pages	3
Journal	Acta Neurologica Belgica
Volume	119
Issue number	4
DOIs	https://doi.org/10.1007/s13760-018-1026-5
State	Published - Dec 1 2019

ASJC Scopus subject areas

Clinical Neurology

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10.1007/s13760-018-1026-5

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title = "A new NBIA patient from Turkey with homozygous C19ORF12 mutation",

author = "Kasapkara, {{\c C}iğdem Seher} and Leyla T{\"u}mer and Allison Gregory and Fatih Ezg{\"u} and Aslı İnci and Derinkuyu, {Bet{\"u}l Emine} and Rachel Fox and Caleb Rogers and Susan Hayflick",

note = "Funding Information: Acknowledgements Sequencing was provided by the University of Washington Center for Mendelian Genomics (UW-CMG) and was funded by the National Human Genome Research Institute and the National Heart, Lung and Blood Institute Grant 2UM1HG006493 to Drs. Debbie Nickerson, Michael Bamshad, and Suzanne Leal.",

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language = "English (US)",

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T1 - A new NBIA patient from Turkey with homozygous C19ORF12 mutation

AU - Kasapkara, Çiğdem Seher

AU - Tümer, Leyla

AU - Gregory, Allison

AU - Ezgü, Fatih

AU - İnci, Aslı

AU - Derinkuyu, Betül Emine

AU - Fox, Rachel

AU - Rogers, Caleb

AU - Hayflick, Susan

N1 - Funding Information: Acknowledgements Sequencing was provided by the University of Washington Center for Mendelian Genomics (UW-CMG) and was funded by the National Human Genome Research Institute and the National Heart, Lung and Blood Institute Grant 2UM1HG006493 to Drs. Debbie Nickerson, Michael Bamshad, and Suzanne Leal.

PY - 2019/12/1

Y1 - 2019/12/1

UR - http://www.scopus.com/inward/record.url?scp=85054790769&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85054790769&partnerID=8YFLogxK

U2 - 10.1007/s13760-018-1026-5

DO - 10.1007/s13760-018-1026-5

M3 - Letter

C2 - 30298423

AN - SCOPUS:85054790769

SN - 0300-9009

VL - 119

SP - 623

EP - 625

JO - Acta Neurologica Belgica

JF - Acta Neurologica Belgica

IS - 4

ER -

A new NBIA patient from Turkey with homozygous C19ORF12 mutation

ASJC Scopus subject areas

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