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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. Clin Genet. 2014 Feb; 85(2):166-71.
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PubMed
subject areas
4-Aminopyridine
Aged
Base Sequence
DNA Mutational Analysis
Electromyography
Exome
Female
Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing)
High-Throughput Nucleotide Sequencing
Humans
Molecular Sequence Data
Myasthenia Gravis
Myasthenic Syndromes, Congenital
Neostigmine
Neuromuscular Junction
Pedigree
Reverse Transcriptase Polymerase Chain Reaction
authors with profiles
Robert Wollmann