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Keyword [dominant mutation]
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1. Detection Of The Mutations And Polymorphisms Of PKD2 In Chinese
2. A Novel Missense SNRNP200Mutation Associated With Autosomal Dominant Retinitis Pigmentosa In A Chinese Family
3. A CRYGC Mutation Associated With Autosomal Dominant Congenital Cataract In A Chinese Family
4. Identification Of A De Novo HBB Frameshift Mutation Causing β-thalassemia Major
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