title: Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.
authors.affiliation: Ophthalmic Laboratories, Regenerative Medicine Research Center, West China Hospital, Sichuan University, Chengdu, China.
authors.forename: Xiao Min
authors.initials: XM
authors.lastname: Zhou
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: Zhao
authors.forename: Wen Han
authors.initials: WH
authors.lastname: Yu
authors.forename: Ning
authors.initials: N
authors.lastname: Fan
authors.forename: Nai Hong
authors.initials: NH
authors.lastname: Yan
authors.forename: Qian
authors.initials: Q
authors.lastname: Su
authors.forename: Yu Qin
authors.initials: YQ
authors.lastname: Liang
authors.forename: Yun
authors.initials: Y
authors.lastname: Wang
authors.forename: Lie Ping
authors.initials: LP
authors.lastname: Li
authors.forename: Su Ping
authors.initials: SP
authors.lastname: Cai
authors.forename: Jost B
authors.initials: JB
authors.lastname: Jonas
authors.forename: Xu Yang
authors.initials: XY
authors.lastname: Liu
mesh_terms: D000071096:ADAMTS Proteins; D000293:Adolescent; D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D004479:Ectopia Lentis / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D019699:Thrombospondins / Q000235:genetics*; D055815:Young Adult
chemical_list: C486779:ADAMTSL4 protein, human; D019699:Thrombospondins; D000071096:ADAMTS Proteins