Molecular characterization of Joubert syndrome in Saudi Arabia

Human Mutation

Volumn 33, Issue 10, 2012, Pages 1423-1428

  Alazami, Anas M ^a   Alshammari, Muneera J ^a,b   Salih, Mustafa A ^b   Alzahrani, Fatema ^a   Hijazi, Hadia ^a   Seidahmed, Mohammed Z ^c   Abu Safieh, Leen ^a   Aldosary, Mazhor ^a   Khan, Arif O ^a,d   Alkuraya, Fowzan S ^a,b,e  

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

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c SECURITY FORCES HOSPITAL   (Saudi Arabia)

^d KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

AHI1; Autozygome analysis; C5ORF42; CEP290; RPGRIP1L; TCTN1; TMEM237

Indexed keywords

ALLELE; ARTICLE; C5ORF42 GENE; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; JOUBERT SYNDROME; MALE; MOLECULAR BIOLOGY; PRIORITY JOURNAL; SAUDI ARABIA; TCTN1 GENE; TMEM237 GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANTIGENS, NEOPLASM; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; EXOME; EYE ABNORMALITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; PEDIGREE; RETINA; SAUDI ARABIA;

EID: 84866299003     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22134     Document Type: Article

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