Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations-Reference-Cited by-同舟云学术

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Genetic study of SMA patients without homozygous SMN1 deletions: identification of compound heterozygotes and characterisation of novel intragenic SMN1 mutations

Published:2002-02-08 Issue:3 Volume:110 Page:257-263
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Martín Yolanda,Valero Ana,del Castillo Emilia,Pascual Samuel I.,Hernández-Chico Concepción

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-002-0681-y.pdf

Cited by 36 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy;Human Molecular Genetics;2024-03-23

2. Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript;Frontiers in Neurology;2023-09-20

3. Spinal muscular atrophy carrier frequency in Saudi Arabia;Molecular Genetics & Genomic Medicine;2022-09-05

4. Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development;International Journal of Molecular Sciences;2021-07-23

5. Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy;Brain Communications;2020

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