Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF
以色列一个近亲结婚家庭中出现的非综合征型早发性锥杆细胞营养不良和肢带型肌营养不良是由ALMS1和DYSF基因中两个独立但连锁的突变引起的。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.22822
Lazar, Csilla H; Kimchi, Adva; Namburi, Prasanthi; Mutsuddi, Mousumi; Zelinger, Lina; Beryozkin, Avigail; Ben-Simhon, Shiran; Obolensky, Alexey; Ben-Neriah, Ziva; Argov, Zohar; Pikarsky, Eli; Fellig, Yakov; Marks-Ohana, Devorah; Ratnapriya, Rinki; Banin, Eyal; Sharon, Dror; Swaroop, Anand
