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Genetic screening method for analyzing survival motor neuron copy number in spinal muscular atrophy by multiplex ligation-dependent probe amplification and droplet digital polymerase chain reaction
《Chinese Medical Journal》2020年第20期2510-2511,共2页Jing-Mei Hong Miao Zhao Jin He Xue-Jing Huang Zhi-Yuan Zhao Wan-Jin Chen Ning Wang Jin-Jing Li 
grants from the National Natural Science Foundation of China(Nos.81771230,U1905210);the Joint Funds for the Innovation of Science and Technology of Fujian Province(Nos.2017Y9094 and 2018Y9082);the National Key Clinical Specialty Discipline Construction Program,the Key Clinical Specialty Discipline Construction Program of Fujian,and the Startup Fund for Scientific Research of Fujian Medical University(Nos.2018QH1050 and 2018QH2035).
To the Editor:Spinal muscular atrophy(SMA)is an autosomal recessive disease caused by a deficiency of the survival motor neuron 1(SMN1)protein,which causes the loss of motor neurons in the anterior horn of the spinal ...
关键词：ATROPHY MUSCULAR TRANSLATIONAL 
Pallister-Killian syndrome： meiosis Ⅱ non-disjunction may be the first step in the formation of isochromosome 12p被引量：3
《Chinese Medical Journal》2010年第23期3482-3485,共4页SHEN Jian-dong LIANG De-sheng ZHOU Zhong-min XIA Yan LONG Zhi-gao WU Ling-qian 
This study was supported by the National Key Technology R＆D Program of China （No. 2006BAI05A08） and National Natural Science Foundation of China （No. 30571021）.
Pallister-Killian syndrome （PKS） is a rare and sporadic genetic disorder due to tissue-limited mosaicism for supernumerary isochromosome 12p（i（12p））, which is usually absent or at low-level mosaicism in cultured...
关键词：Pallister-Killian syndrome SNP oligonucleotide array copy number analysis short tandem repeat polymorphism fluorescence in situ hybridization meiotic non-disjunction 
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