USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

Molecular Vision

Volumn 18, Issue , 2012, Pages 1885-1894

  Imtiaz, Faiqa ^a   Taibah, Khalid ^b   Bin Khamis, Ghada ^a   Kennedy, Shelley ^c   Hemidan, Amal ^a   Al Qahtani, Faisal ^a   Tabbara, Khalid ^a   Al Mubarak, Bashayer ^a   Ramzan, Khushnooda ^a   Meyer, Brian F ^a   Al Owain, Mohammed ^a,d  

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

^b ENT Medical Centre   (Saudi Arabia)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHILD; CLINICAL EVALUATION; COCHLEA PROSTHESIS; CONTROLLED STUDY; EVOKED BRAIN STEM AUDITORY RESPONSE; EYE EXAMINATION; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; LANGUAGE DISABILITY; LINKAGE ANALYSIS; MALE; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; OUTCOME ASSESSMENT; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOPATHY; SCHOOL CHILD; SEQUENCE ANALYSIS; SPEECH DISORDER; USHER SYNDROME; USHER SYNDROME 1G GENE;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; COCHLEAR IMPLANTS; CONSANGUINITY; EXONS; FEMALE; GENES, RECESSIVE; GENETIC LINKAGE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MUTATION; NERVE TISSUE PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; RETINA; SAUDI ARABIA; SEQUENCE ANALYSIS, DNA; SIBLINGS; USHER SYNDROMES;

EID: 84865829122     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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