RP1 and retinitis pigmentosa: Report of novel mutations and insight into mutational mechanism

British Journal of Ophthalmology

Volumn 96, Issue 7, 2012, Pages 1018-1022

  Al Rashed, May ^a,b,c   Abu Safieh, Leen ^b   Alkuraya, Hisham ^d   Aldahmesh, Mohammed A ^b   Alzahrani, Jawaher ^b,g   Diya, Mohamed ^b   Hashem, Mais ^b   Hardcastle, Alison J ^a   Al Hazzaa, Selwa A F ^b,e   Alkuraya, Fowzan S ^b,e,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KING SAUD UNIVERSITY   (Saudi Arabia)

^d KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

^f KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^g KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; DOMINANT INHERITANCE; GENE FREQUENCY; GENE MUTATION; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; MUTATOR GENE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; RETINITIS PIGMENTOSA; RP1 GENE; SCHOOL CHILD;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RETINITIS PIGMENTOSA; YOUNG ADULT;

EID: 84862857102     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjophthalmol-2011-301134     Document Type: Article

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