Point mutation

Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Carolyn H. Buzin, Jinong Feng, Yan Jin, William A. Scaringe, Qiang Liu, Johan T. den Dunnen, Jerry R. Mendell, Steve S. Sommer

Citations: 60 • 2005

A DNA Microarray for the Detection of Point Mutations and Copy Number Variation Causing Familial Hypercholesterolemia in Europe

Marianne Stef, Lourdes Palacios, Estíbaliz Olano-Martin, Carolyn Foe-A-Man, Laura van de Kerkhof, Lisette N. Klaaijsen, Araitz Molano, Ellen J. Schuurman, Diego Tejedor, Joep C. Defesche

Citations: 19 • 2013

Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta

Jiapiao Zhuang, Gerard Tromp, Helena Kuivaniemi, Salvador Castells, Merete Bugge, Darwin J. Prockop

Citations: 18 • 1996

An improved high throughput heteroduplex mutation detection system for screeningBRCA2 mutations?fluorescent mutation detection (F-MD)

S M Edwards, Zsofia Kote‐Jarai, Rifat Hamoudi, Rosalind A. Eeles

Citations: 16 • 2001

Plasmid-Based One-Pot Saturation Mutagenesis and Robot-Based Automated Screening for Protein Engineering

Fumihiro Kawai, Akihiko Nakamura, Akasit Visootsat, Ryota Iino

Citations: 8 • 2018

GEDpm-cg: Genome Editing Automated Design Platform for Point Mutation Construction in Corynebacterium glutamicum

Yi Yang, Yufeng Mao, Ye Liu, Ruoyu Wang, Hui Lu, Haoran Li, Jiahao Luo, Meng Wang, Xiaoping Liao, Hongwu Ma

Citations: 4 • 2021