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Keyword [frameshift mutation]
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1. Identification Of A Novel β Thalassemia Mutation And Development Of A Method For High-throughput Mutation Detection Of β-globin Gene
2. Transmission Disequilibrium Analysis Of 1137-1140 Del GTGA Frameshift Mutation Within The KCNN3 Gene Using Family Trios With Schizophrenia
3. Identification Of A Novel Frameshift Mutation At Codon 53 (-T) In The β Globin Gene Causing Dominantly Inherited β Thalassemia In A Chinese Miao Family
4. Molecular Genetic Analyses Of A Chinese Families With Hypohidrotic Ectodermal Dysplasia
5. Analysis Of Chinese Common GJB2 Mutation And Study Of Subcellular Localization Of Mutant Protein
6. Identification Of The De Novo Mutation At The α2-globin Gene And SEA Type Of α-thalassmia Deletion Causing Hemoglobin H Disease
7. Mutation Analysis Of The ECM1 Gene In A Chinese Family With Lipoid Proteinosis
8. A Pathological And Morphological Observation Of Gastric Carcinoma With Neuroendocrine Features And Mutation Analysis Of Sox2Gene
9. Efficient Targeting Of FATS At AT-rich Sequence In Mice Through TALEN-mediated Double-hit Genome Modification
10. A Homozygous Fancm Frameshift Mutation Causes Male Infertility In A Consanguineous Pakistani Family
11. A Novel PAX6 Deletion In A Chinese Family With Congenital Aniridia
12. Research On The Clinical Characteristics And Disease-causing Mechanisms In A Chinese Family With Cleidocranial Dysplasia
13. The Tissue Expression Of NMNAT1 And SIRT1 In LCA Mice With Compound Heterozygote With NMNAT1 Mutation And A Novel Frameshift Mutation Of SMN1 Gene Cause Spinal Muscular Atrophy
14. Study On The Role And Mechanism Of PTEN Y68 Frame Shift In The Tolerance Of Endometrial Cancer To Chemo-radiotherapy
15. Genetic Study Of Amyotrophic Lateral Sclerosis 1. Study On The Characteristics Of Gene Mutations In Chinese Patients With Amyotrophic Lateral Sclerosis 2. Study On The Transcriptional Effects Of Amyotrophic Lateral Sclerosis-associated KIF5A Gene Mutation
16. Clinical Genotyping By NGS Reveals A De Novo Dominant HBB Exon Mutation Causing Abnormal Hemoglobin
17. Preliminary Study On The Effects Of Formaldehyde And TMBIM4 On Early Embryonic Development
18. Studies Of The Roles Of Twist1/2&Runx2in Bone And Tooth Development
19. Identification Of A De Novo HBB Frameshift Mutation Causing ?-thalassemia Major
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