FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome

• المؤلفون الرئيسيون: Rajan-Babu, Indhu-Shree, Lian, Mulias, Cheah, Felicia SH, Chen, Min, Tan, Arnold SC, Prasath, Ethiraj B, Loh, Seong Feei, Chong, Samuel S
• مؤلفون آخرون: DUKE-NUS MEDICAL SCHOOL
• التنسيق: Review
• اللغة: English
• منشور في: CAMBRIDGE UNIV PRESS 2022
• الموضوعات: Science & Technology; Life Sciences & Biomedicine; Biochemistry & Molecular Biology; Medicine, Research & Experimental; Research & Experimental Medicine; MULTIPLE DISPLACEMENT AMPLIFICATION; FULL-MUTATION; PRIMED PCR; PRACTICE GUIDELINES; MYOTONIC-DYSTROPHY; EXPANDED ALLELES; PREMUTATION; DNA; CARRIERS; DISEASE
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/226868
• المؤسسة: National University of Singapore

10.1017/erm.2017.10