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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.
Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb; 19(2):114-21.
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PubMed
subject areas
Adolescent
Child
Child, Preschool
DNA Mutational Analysis
Exons
Female
Genetic Counseling
Genetic Linkage
Heterozygote
Humans
Infant
Introns
Male
Molecular Sequence Data
Mutation
Myopathies, Structural, Congenital
Phenotype
Polymorphism, Genetic
Protein Tyrosine Phosphatases
Protein Tyrosine Phosphatases, Non-Receptor
Reverse Transcriptase Polymerase Chain Reaction
United States
X Chromosome
authors with profiles
Soma Das