Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the litera...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Inherit Metab Dis
Hlavní autoři: Reid, Emma S., Williams, Hywel, Anderson, Glenn, Benatti, Malika, Chong, Kling, James, Chela, Ocaka, Louise, Hemingway, Cheryl, Little, Daniel, Brown, Richard, Parker, Alasdair, Holden, Simon, Footitt, Emma, Rahman, Shamima, Gissen, Paul, Mills, Philippa B., Clayton, Peter T.
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Netherlands 2017
Témata:
Original Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393281/
https://ncbi.nlm.nih.gov/pubmed/28255779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0025-7
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky