Two Japanese patients with mutations in the XLRS1 gene

Demidmaa Tuvdendorj, Yasushi Isashiki, Norio Ohba, Shozo Sonoda, Shuji Izumo

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Novel and missense mutations (N179D, E72K) of the XLRS1 gene contributed to the definite diagnosis of X-linked congenital retinoschisis.

Original languageEnglish (US)
Pages (from-to)354-357
Number of pages4
JournalRetina
Volume22
Issue number3
DOIs
StatePublished - Jun 2002
Externally publishedYes

Fingerprint

Retinoschisis
Missense Mutation
Mutation
Genes

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Cite this

Two Japanese patients with mutations in the XLRS1 gene. / Tuvdendorj, Demidmaa; Isashiki, Yasushi; Ohba, Norio; Sonoda, Shozo; Izumo, Shuji.

In: Retina, Vol. 22, No. 3, 06.2002, p. 354-357.

Research output: Contribution to journalArticle

Tuvdendorj, D, Isashiki, Y, Ohba, N, Sonoda, S & Izumo, S 2002, 'Two Japanese patients with mutations in the XLRS1 gene', Retina, vol. 22, no. 3, pp. 354-357. https://doi.org/10.1097/00006982-200206000-00017
Tuvdendorj, Demidmaa ; Isashiki, Yasushi ; Ohba, Norio ; Sonoda, Shozo ; Izumo, Shuji. / Two Japanese patients with mutations in the XLRS1 gene. In: Retina. 2002 ; Vol. 22, No. 3. pp. 354-357.
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