Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

Molecular Vision

Volumn 21, Issue , 2015, Pages 236-243

  Ravesh, Zeinab ^a,b   El Asrag, Mohammed E ^c,d   Weisschuh, Nicole ^b   McKibbin, Martin ^e   Reuter, Peggy ^b   Watson, Christopher M ^e   Baumann, Britta ^b   Poulter, James A ^c   Sajid, Sundus ^a   Panagiotou, Evangelia S ^c   O’Sullivan, James ^f   Abdelhamed, Zakia ^c   Bonin, Michael ^g   Soltanifar, Mehdi ^h   Black, Graeme C M ^f   Din, Muhammad Amin Ud ⁱ   Toomes, Carmel ^c   Ansar, Muhammad ^a   Inglehearn, Chris F ^c   Wissinger, Bernd ^b   Ali, Manir ^c   more..

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d BENHA UNIVERSITY   (Egypt)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g UNIVERSITY OF TÜBINGEN   (Germany)

^h PAKISTAN INSTITUTE OF MEDICAL SCIENCES   (Pakistan)

ⁱ UNIVERSITY OF EDUCATION   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; C8ORF37 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; ARTICLE; C8ORF37 GENE; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; DISEASE COURSE; EXOME; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DISRUPTION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC TRANSCRIPTION; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; MALE; MIDDLE AGED; MOLECULAR PATHOLOGY; NEXT GENERATION SEQUENCING; NUCLEIC ACID BASE SUBSTITUTION; PAKISTANI; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN DEFECT; RECESSIVE INHERITANCE; RETINITIS PIGMENTOSA; RNA SPLICING; SCHOOL CHILD; DNA MUTATIONAL ANALYSIS; GENETICS; MUTATION; PAKISTAN; PATHOLOGY; RECESSIVE GENE;

ADOLESCENT; ADULT; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PAKISTAN; PROTEINS; RETINITIS PIGMENTOSA; RNA SPLICING;

EID: 84924285262     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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