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Retinitis Punctata Albescens and RLBP1-Allied Phenotypes

Purpose: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod–cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children and adults. Design: Retrospective cohort study. Participants: Patients with pathogenic variants...

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-д хадгалсан:
Үндсэн зохиолчид: Béatrice Bocquet, PhD, Hicham El Alami Trebki, MD, Anne Françoise Roux, PharmD, PhD, Gilles Labesse, PhD, Philippe Brabet, PhD, Carl Arndt, MD, PhD, Xavier Zanlonghi, MD, Sabine Defoort-Dhellemmes, MD, Dalil Hamroun, PhD, Céline Boulicot-Séguin, MD, Léopoldine Lequeux, MD, Marie Christine Picot, MD, Hélèna Huguet, Isabelle Audo, MD, PhD, Claire Marie Dhaenens, PharmD, PhD, Vasiliki Kalatzis, PhD, Isabelle Meunier, MD, PhD
Формат: Artigo
Хэл сонгох:Inglês
Хэвлэсэн: Elsevier 2021-09-01
Цуврал:Ophthalmology Science
Нөхцлүүд:
Bothnia dystrophy
CRALBP
gene therapy
Newfoundland rod–cone dystrophy
retinitis punctata albescens
RLBP1
Онлайн хандалт:http://www.sciencedirect.com/science/article/pii/S2666914521000506
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