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Article

High-throughput screening reveals novel mutations in spinal muscular atrophy patients.

Italian journal of pediatrics - 4 Nov 2020

Zhang Ruiping, Gu Chunyu, Pu Linjie, Meng Yingtao, Shu Jianbo, Cai Chunquan

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive hereditary disease associated with severe muscle atrophy and weakness in the limbs and trunk. The discovery of mutated genes is helpful in diagnosis and treatment for SMA. METHODS: Eighty-three whole blood samples were collected from 28 core families of clinically suspected SMA, and multiplex ligation probe amplification (MLPA) was performed....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 33148303
DOI: 10.1186/s13052-020-00925-1
PMCID: PMC7641840

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