Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Beryozkin, Avigail ^a   Shevah, Elia ^a   Kimchi, Adva ^a   Mizrahi Meissonnier, Liliana ^a   Khateb, Samer ^a   Ratnapriya, Rinki ^b   Lazar, Csilla H ^b,c   Blumenfeld, Anat ^a   Ben Yosef, Tamar ^d   Hemo, Yitzhak ^a   Pe'Er, Jacob ^a   Averbuch, Eduard ^a   Sagi, Michal ^a   Boleda, Alexis ^b   Gieser, Linn ^b   Zlotogorski, Abraham ^a   Falik Zaccai, Tzipora ^e,f   Alimi Kasem, Ola ^g   Jacobson, Samuel G ^h   Chowers, Itay ^a   Swaroop, Anand ^b   Banin, Eyal ^a   Sharon, Dror ^a   more..

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b NATIONAL EYE INSTITUTE   (United States)

^c BABE BOLYAI UNIVERSITY   (Romania)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e WESTERN GALILEE HOSPITAL   (Israel)

^f Department of Dermatology Hadassah Hebrew University Medical Center ^*  (Israel)

^g HAEMEK MEDICAL CENTER   (Israel)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC MARKER;

ADULT; AGED; ARAB; CHROMOSOMAL MAPPING; DNA SEQUENCE; ETHNOLOGY; EXOME; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HUMAN; ISRAEL; MALE; MIDDLE AGED; MISSENSE MUTATION; PREVALENCE; PROCEDURES; RETINAL DISEASES; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICS AND NUMERICAL DATA; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; ARABS; CHROMOSOME MAPPING; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ISRAEL; MALE; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREVALENCE; RETINAL DISEASES; RISK FACTORS; SEQUENCE ANALYSIS, DNA;

EID: 84940030605     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep13187     Document Type: Article

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