Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

Min Jeong Jang,Cha Gon Lee,Hyun Jung Kim

Novel compound heterozygous mutations of ATM in ataxia-telangiectasia: A case report and calculated prevalence in the Republic of Korea

2018

Min Jeong Jang
Cha Gon Lee
Hyun Jung Kim

Ataxia-telangiectasia (AT; OMIM 208900) is a rare autosomal recessive inherited progressive neurodegenerative disorder, with onset in early childhood....

Keywords:

Spinocerebellar Degenerations
Ataxia-telangiectasia
Compound heterozygosity
Cancer research
Biology
Genetics
Progressive neurodegenerative disorder
Medicine
Dominance (genetics)

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