In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy

Jennifer Buenaventura Cordero; Robert W. Williams; Michael B. Petersen; Haris Kokotas; Maria Grigoriadou; George Kitsos; Nawajes A. Mandal; Claire L. Simpson

In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy

Jennifer Buenaventura Cordero, Robert W. Williams, Michael B. Petersen, Haris Kokotas, Maria Grigoriadou, George Kitsos, Nawajes A. Mandal, Claire L. Simpson

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

Originalsprog	Engelsk
Artikelnummer	3141
Tidsskrift	Investigative Ophthalmology & Visual Science
Vol/bind	59
Udgave nummer	9
ISSN	0146-0404
Status	Udgivet - 2018
Begivenhed	Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) - Honolulu, USA Varighed: 29 apr. 2018 → 3 maj 2018

Konference

Konference	Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO)
Land/Område	USA
By	Honolulu
Periode	29/04/2018 → 03/05/2018

Adgang til dokumentet

https://iovs.arvojournals.org/article.aspx?articleid=2691083&resultClick=1Licens: Ikke-specificeret

AUB Link

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Citationsformater

Cordero, J. B., Williams, R. W., Petersen, M. B., Kokotas, H., Grigoriadou, M., Kitsos, G., Mandal, N. A., & Simpson, C. L. (2018). In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy. Investigative Ophthalmology & Visual Science, 59(9), Artikel 3141. https://iovs.arvojournals.org/article.aspx?articleid=2691083&resultClick=1

@article{1341b8e8be6847bda92e10e1baeae75f,

title = "In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy",

author = "Cordero, {Jennifer Buenaventura} and Williams, {Robert W.} and Petersen, {Michael B.} and Haris Kokotas and Maria Grigoriadou and George Kitsos and Mandal, {Nawajes A.} and Simpson, {Claire L.}",

year = "2018",

language = "English",

volume = "59",

journal = "Investigative Ophthalmology & Visual Science",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology Inc.",

number = "9",

note = "Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) ; Conference date: 29-04-2018 Through 03-05-2018",

}

Cordero, JB, Williams, RW, Petersen, MB, Kokotas, H, Grigoriadou, M, Kitsos, G, Mandal, NA & Simpson, CL 2018, 'In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy', Investigative Ophthalmology & Visual Science, bind 59, nr. 9, 3141. <https://iovs.arvojournals.org/article.aspx?articleid=2691083&resultClick=1>

In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy. / Cordero, Jennifer Buenaventura; Williams, Robert W.; Petersen, Michael B. et al.
I: Investigative Ophthalmology & Visual Science, Bind 59, Nr. 9, 3141, 2018.

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning › peer review

TY - ABST

T1 - In silico functional analysis of genetic variants in chromosome 19 to identify disease-causing gene in a large Greek family with autosomal dominant macular dystrophy

AU - Cordero, Jennifer Buenaventura

AU - Williams, Robert W.

AU - Petersen, Michael B.

AU - Kokotas, Haris

AU - Grigoriadou, Maria

AU - Kitsos, George

AU - Mandal, Nawajes A.

AU - Simpson, Claire L.

PY - 2018

Y1 - 2018

M3 - Conference abstract in journal

SN - 0146-0404

VL - 59

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 9

M1 - 3141

T2 - Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO)

Y2 - 29 April 2018 through 3 May 2018

ER -