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Your search keyword '"Klitten, Laura"' showing total 2 results
Start Over Author "Klitten, Laura" Journal european journal of human genetics
2 results on '"Klitten, Laura"'

2. Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy.

Author

Klitten, Laura L., Møller, Rikke S., Ravn, Kirstine, Hjalgrim, Helle, and Tommerup, Niels

Subjects
*GENES, *INTELLECTUAL disabilities, *POLYMERASE chain reaction, *MONOAMINE oxidase, *EPILEPSY, *MEDICAL screening
Abstract

The article reports on the case of mentally retarded and epileptic male patient which carries duplication of monoamine oxidase B (MAOB), monoamine oxidase A (MAOA), and NDP genes. It says that 16 copy number variants (CNVs) of minimum 100 kb were identified in the patient. The real-time quantitative polymerase chain reaction (qPCR) was used to validate the duplication of MAOB, MAOA, and NDP genes. Moreover, clinical examination at the age of 32 revealed moderate-to-severe mental retardation.

Published
2011
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