splicing mutation - Globe Thesis

Keyword [splicing mutation] Result: 1 - 20 \| Page: 1 of 1
1.	Screening And Functional Study Of Gene Mutations In Nodular Sclerosis And Pyogenic Sweatadenitis
2.	A Study On The Mutations In Promoter And Exon 2～4 Of The Lipoprotein Lipase Gene
3.	Diagnosis Of Patients With Cornelia De Lange Syndrome By Cytogenetic And Molecular Genetic Techniques
4.	Mutation Detection Of An Osteogenesis Imperfect Pedigree
5.	A Study Of New EVC Splicing Mutation Of Scott Ellis’s Syndrome
6.	Mutation Analysis Of The LAMA3 And LAMB3 Gene In Junctional Epidermolysis Bullosa
7.	Screening And Functional Study For Splicing Mutation In Familial Hypercholesterolemia
8.	The Genetic Analysis Of Muscular Dystrophy And Study Of Nevel Mutation
9.	A Novel Splicing Mutation Of DFNA5 And Its Functional Study
10.	Clinical Analysis Of A Novel Splicing Mutation Of SDHB Gene Inducing Paraganglioma Near Inferior Vena Cava
11.	Study On Pathogenicity Of A Novel Splicing Mutation For LMNA Gene Causing Limb Girdle Muscular Dystrophy 1B
12.	Clinical Analysis And Genetic Study Of Alport Syndrome
13.	Clinical Phenotype Of Hereditary Spastic Paraplegia Type 4 And SPAST Gene Novel Mutations And Protein Function Studies
14.	Mutation Screening And Functional Analysis Of F8 Gene In Patients With Severe Hemophilia A
15.	Prenatal Diagnosis And Genetic Study Of Pathogenic Genes In A Family With Congenital Nephrotic Syndrome
16.	Pathogenesis Of Novel Splicing Mutations In Osteogenesis Imperfecta And Aniridia
17.	A Clinical And Genetic Study On Hereditary Diffuse Leukoencephalopathy With Spheroids(HDLS)
18.	Study On Auditory Function And Pathogenic Mechanism Of TBC1D24 And Other Deafness Genes
19.	A Study On The Causative Gene Of A SPG26 Family Based On Next-generation Sequencing Technology
20.	Identification And Genetic Study Of Disease-causing Genes In Two Families With Hereditary Hemolytic Anemia
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