A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

Molecular Vision

Volumn 16, Issue , 2010, Pages 207-212

  Aldahmesh, Mohammed A ^a   Al Owain, Mohammed ^a   Alqahtani, Faisal ^a   Hazzaa, Salwa ^a   Alkuraya, Fowzan S ^a,b,c  

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

^b KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM BINDING PROTEIN; CALCIUM BINDING PROTEIN 4; UNCLASSIFIED DRUG; CABP4 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; BASE PAIRING; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; DNA SEQUENCE; ELECTRORETINOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE MAPPING; HOMOZYGOSITY; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; NULL ALLELE; NYSTAGMUS; PHENOTYPE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; BLINDNESS; FAMILY; GENETIC ASSOCIATION; GENETICS; LEBER HEREDITARY OPTIC NEUROPATHY; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE;

ADOLESCENT; BASE SEQUENCE; BLINDNESS; CALCIUM-BINDING PROTEINS; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PHENOTYPE;

EID: 77949314192     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

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