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Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2007

Huang Chien-Hao, Chang Yih-Yuan, Chen Chung-Hsiung, Kuo Yen-Shi, Hwu Wuh-Liang, Gerdes Tommy, Ko Tsang-Ming

Abstract excerpt

PURPOSE: To determine the copy number of survival motor genes using multiplex ligation-dependent probe amplification. METHODS: Three hundred seventy-three subjects were recruited and divided into three groups. Group 1 included 310 subjects without a history of muscular atrophy, Group 2 consisted of 18 patients and 45 carriers of spinal muscular atrophy, and Group 3 included 20 subjects who were previously tested...

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PMID: 17438389
DOI: 10.1097/gim.0b013e31803d35bc

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