novel mutation - Globe Thesis

Keyword [novel mutation] Result: 1 - 20 \| Page: 1 of 4
1.	A Novel Mutation In The TIGR Gene In A Chinese Primary Open Angle Glaucoma Family
2.	Fuctional Expression Of A Novel Mutation R675Q Identified In A Chinese Normakalemic Periodic Paralysis Family
3.	Function Study Of PRKAG2 With A Novel Mutation G100S Responsible For PRKAG2 Cardiac Syndrome In Chinese
4.	Pathogenesis Of PRKAG2 Cardiac Syndrome Caused By A Novel Mutation PRKAG2 G100S In Chinese
5.	Function Study Of PRKAG2with A Novel Mutation G100S Responsible For PRKAG2Cardiac Syndrome In Chinese
6.	Identification Of 2 Novel Mutation Genes Causing Thalassemia In Chinese People
7.	Detection Of A Novel Mutation In COL4A5 Gene From A Chinese Family With X-linked Alport Syndrome
8.	Identification Of A Novel Mutation In The K6a Gene Of Pachyonychia Congenita Type 1
9.	Study On The Relationship Between Novel Mutation Sites Of Alpha(1,2)Fucosyltransferase Gene And Its Functions
10.	Study On The Detection And Significance Of Bcl10 Novel Mutation In Ocular Adnexal Mucosa-associated Lymphoid Tissue Lymphoma
11.	Gene Localization And A Novel Mutation Identified For Non-syndromic Hearing Loss
12.	Multiple Familial Trichoepithelioma Associated With A Novel Mutation In The CYLD Gene
13.	A Novel Mutation 605 (Tï¼žA) In CX32 Gene Causes X-linked Recessive Charcot-Marie-Tooth Disease
14.	Study Of A Family With A Novel Mutation Of Gap Junction Protein Î²1(GJB1) Gene In X-linked Charcot-Marie-Tooth Disease
15.	A New Novel Mutation Of ADAR1 Gene In A Family With Dyschromatosis Symmetrica Hereditaria
16.	A Novel Mutation Of Gene Runx2 In Chinese Patients With Delayed Tooth Eruption
17.	Identification Of A Novel Mutation In The K6a And K16 Genes Of Pachyonychia Congenita Type â… In Xinjiang
18.	Laboratory Diagnosis And Molecular Characterization Of A Novel Mutation Of Von Willebrand Factor In Type 2A Von Willebrand's Disease
19.	Whole Exome Sequencing To Identify A Novel Mutation In SCN5A Associated With Inherited Cardiac Conduction Disease
20.	Study Of A Family With Marfan Syndrome Caused By A Novel Mutation Of Fibrillin-1Gene
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