Compound heterozygous mutations in GRM6 causing complete Schubert-Bornschein type congenital stationary night blindness
Background: To explore the genetic defects of a Chinese family with complete Schubert-Bornschein type congenital stationary night blindness (CSNB). Methods: A Chinese family with complete Schubert-Bornschein type CSNB was enrolled in this study. The detailed ocular presentations of the patient were...
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| Автори: | , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Elsevier
2024-03-01
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| Серія: | Heliyon |
| Предмети: | |
| Онлайн доступ: | http://www.sciencedirect.com/science/article/pii/S2405844024030706 |
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