[HTML][HTML] Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa

NHH Wang, SJ Chen, CF Yang… - … & visual science, 2016 - iovs.arvojournals.org
Purpose: To identify the genetic cause in five families with autosomal recessive retinitis
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …

[PDF][PDF] Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa

NHH Wang, SJ Chen, CF Yang, HW Chen, HP Chuang… - pdfs.semanticscholar.org
PURPOSE. To identify the genetic cause in five families with autosomal recessive retinitis
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

NH Wang, SJ Chen, CF Yang, HW Chen… - … & Visual Science, 2016 - europepmc.org
Purpose To identify the genetic cause in five families with autosomal recessive retinitis
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa

NHH Wang, SJ Chen, CF Yang… - … & visual science, 2016 - pubmed.ncbi.nlm.nih.gov
Purpose To identify the genetic cause in five families with autosomal recessive retinitis
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …

[PDF][PDF] Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa

NHH Wang, SJ Chen, CF Yang, HW Chen, HP Chuang… - scholar.archive.org
PURPOSE. To identify the genetic cause in five families with autosomal recessive retinitis
pigmentosa, a genetic disorder involving retinal degeneration and visual loss with high …

[引用][C] Homozygosity mapping and whole-genome sequencing links a missense mutation in POMGNT1 to autosomal recessive retinitis pigmentosa

NHH Wang, SJ Chen, CF Yang, HW Chen… - … & VISUAL SCIENCE …, 2016 - ir.sinica.edu.tw
Issue Date: 2016-07 Relation: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 57
(8), 3601-3609 URI: http://ir. sinica. edu. tw/handle/201000000A/24611 ISSN: http://gateway …