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]

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

Research output: Contribution to journalArticle

13 Citations (Scopus)
Original languageEnglish
Pages (from-to)862-865
Number of pages4
JournalJournal of Medical Genetics
Volume36
Issue number11
Publication statusPublished - 1999
Externally publishedYes

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Hereditary Optic Atrophy
Leber Congenital Amaurosis
Jordan
Nonsense Codon
Guanylate Cyclase
Missense Mutation
Pedigree
Retina
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

El-Shanti, H., Al-Salem, M., El-Najjar, M., Ajlouni, K., Beck, J., Sheffield, V. C., & Stone, E. M. (1999). 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, 36(11), 862-865.

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]. / El-Shanti, H.; Al-Salem, M.; El-Najjar, M.; Ajlouni, K.; Beck, J.; Sheffield, V. C.; Stone, E. M.

In: Journal of Medical Genetics, Vol. 36, No. 11, 1999, p. 862-865.

Research output: Contribution to journalArticle

El-Shanti, H, Al-Salem, M, El-Najjar, M, Ajlouni, K, Beck, J, Sheffield, VC & Stone, EM 1999, '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, vol. 36, no. 11, pp. 862-865.
El-Shanti, H. ; Al-Salem, M. ; El-Najjar, M. ; Ajlouni, K. ; Beck, J. ; Sheffield, V. C. ; Stone, E. M. / 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]. In: Journal of Medical Genetics. 1999 ; Vol. 36, No. 11. pp. 862-865.
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