Associated Papers
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Case_Studies
Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.
Stover DA et al.
Genes, 2022
35205228 (PubMed )
Supplement: genes-13-00183-s001.zip › Stover_et_al_GENES_COL1A1_Supp_Tables_S1-S18_final.xlsx › Table_S2._DAMs
Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.
Zu B et al.
Computational and Structural Biotechnology Journal, 2021
34194672 (PubMed )
Supplement: mmc1.xlsx › S3
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Compound heterozygous mutations in COL1A1 associated with an atypical form of type I osteogenesis imperfecta.
Ackermann AM et al.
American Journal of Medical Genetics. Part A, 2017
Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.
Mauri L et al.
Orphanet Journal of Rare Diseases, 2016
[Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child].
Ju M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2016
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