Open AccessGenotype–Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa
Author(s) -
Christina GerthKahlert,
Samuel Koller,
James V. M. Hanson,
Luzy Baehr,
Amit K. Tiwari,
Fatma Kivrak-Pfiffner,
Angela Bahr,
Wolfgang Berger
Publication year - 2019
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-25643
Subject(s) - retinitis pigmentosa , missense mutation , genetics , medicine , locus heterogeneity , compound heterozygosity , exome sequencing , mutation , biology , phenotype , genetic heterogeneity , gene
To compare phenotype variability in retinitis pigmentosa patients with recessive and dominant mutations in the SNRNP200 gene.
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