article_metadata: Heejeong Jeong Hee Jae Huh Jinyoung Youn Ji Sun Kim Jin Whan Cho Chang-Seok Ki
article_metadata: 10.3343/alm.2014.34.1.80
article_metadata: Ann Lab Med
article_metadata: 2014 Jan;34(1):80-4.
article_metadata: CC BY-NC
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24422204/
article_metadata: Ataxia Telangiectasia / genetics Ataxia Telangiectasia Mutated Proteins / genetics
article_metadata: 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
article_metadata: PMC3885782
article_metadata: 24422204
article_metadata: Ataxia-telangiectasia with novel splicing mutations in the ATM gene
article_metadata: 2014