Heejeong Jeong Hee Jae Huh Jinyoung Youn Ji Sun Kim Jin Whan Cho Chang-Seok Ki
10.3343/alm.2014.34.1.80
Ann Lab Med
2014 Jan;34(1):80-4.
CC BY-NC
https://pubmed.ncbi.nlm.nih.gov/24422204/
Ataxia Telangiectasia / genetics Ataxia Telangiectasia Mutated Proteins / genetics
Ataxia Telangiectasia / genetics Ataxia Telangiectasia Mutated Proteins / genetics Case Reports Letter Adolescent Base Sequence Chromosome Inversion Chromosomes, Human, Pair 14 / genetics Chromosomes, Human, Pair 7 / genetics DNA Mutational Analysis Female Humans Karyotyping Magnetic Resonance Imaging Mutation RNA Splicing Translocation, Genetic Ataxia Telangiectasia Mutated Proteins
PMC3885782
24422204
Ataxia-telangiectasia with novel splicing mutations in the ATM gene
2014