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单词 Nijmegen breakage syndrome
释义

Nijmegen breakage syndrome

英语百科

Nijmegen breakage syndrome

Nijmegen breakage syndrome has an autosomal recessive pattern of inheritance.

Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome, ataxia telangiectasia variant 1 (AT-V1) and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism and/or the Synthesis Dependent Strand Annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).

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更新时间:2025/6/17 20:25:00