This page shows the details of why an item matched the keywords from your search.
| Property | Value |
|
has major subject area list
|
Exome; Glutamine-Fructose-6-Phosphate Transaminase (Isomerizing); Myasthenia Gravis; Myasthenic Syndromes, Congenital
|
|
has minor subject area list
|
4-Aminopyridine; Aged; Amifampridine; Base Sequence; DNA Mutational Analysis; Electromyography; Female; High-Throughput Nucleotide Sequencing; Humans; Molecular Sequence Data; Neostigmine; Neuromuscular Junction; Pedigree; Reverse Transcriptase Polymerase Chain Reaction
|
|
information resource reference
|
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. Clin Genet. 2014 Feb; 85(2):166-71.
|
|
label
|
Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
|