A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3]

Journal of Medical Genetics

Volumn 36, Issue 11, 1999, Pages 862-865

  El Shanti, H ^a   Al Salem, M ^a   El Najjar, M ^a   Ajlouni, K ^a   Beck, J ^a   Sheffield, V C ^a   Stone, E M ^a  

^a JORDAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Jordan)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE;

ADOLESCENT; ADULT; CHROMOSOME 17P; CLINICAL ARTICLE; EXON; FEMALE; GENE AMPLIFICATION; GENE LOCUS; HAPLOTYPE; HOMOZYGOTE; HUMAN; INBREEDING; JORDAN; LEBER CONGENITAL AMAUROSIS; LETTER; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; RETINA DYSTROPHY; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; FEMALE; GUANYLATE CYCLASE; HUMANS; JORDAN; MALE; MIDDLE AGED; MUTATION, MISSENSE; OPTIC ATROPHIES, HEREDITARY; PEDIGREE; RETINA;

EID: 0032735644     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (13)