First report of a Chinese patient carrying Hb Ty Gard: A case report
Sign Up to like & getrecommendations! Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000031902
Abstract: Rationale: More than 1300 mutations which lead to abnormal hemoglobin (Hb) have been recorded in the HbVar database. Hb Ty Gard has rarely been reported and has not been reported in China. Patient concerns and… read more here.
Keywords: report chinese; report; report first; first report ... See more keywords
Identification of two novel null variants in CLN8 by targeted next-generation sequencing: first report of a Chinese patient with neuronal ceroid lipofuscinosis due to CLN8 variants
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DOI: 10.1186/s12881-018-0535-7
Abstract: BackgroundNeuronal ceroid lipofuscinoses (NCLs) are one of the most frequent childhood-onset neurodegenerative pathologies characterized by seizures, progressive cognitive decline, motor impairment and loss of vision. For the past two decades, more than 430 variants in… read more here.
Keywords: targeted next; next generation; generation sequencing; report chinese ... See more keywords