Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1994.tb04002.x/fullpdf
Reference30 articles.
1. Exploring the molecular basis for variability among patients with Becker muscular dystrophy - dystrophin gene and protein studies;Beggs;Am J Hum Genet,1991
2. Detection of 98 percent of DMD/BMD gene deletions by polymerase chain reaction;Beggs;Hum Genet,1990
3. Single-blind study of dystrophin staining in carriers of Duchenne muscular dystrophy;Bernier;Can J Neurol Sci,1993
4. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3;Brzustowitcz;Nature,1990
5. Point mutation in the human dystrophin gene - identification through Western blot analysis;Bulman;Genomics,1991
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1. Emphasis on the importance of comprehensive clinical and genetic analysis – spinal muscular atrophy combined with phenylketonuria: A case report;Medicine;2024-08-02
2. Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources;Clinical Neurology and Neurosurgery;2022-06
3. Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy;Frontiers in Genetics;2021-03-10
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