A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

We describe a family with non-syndromic sensorineural hearing impairment inherited in a manner consistent with maternal transmission. Affected members were found to have a novel heteroplasmic mtDNA mutation, T7510C, in the tRNA(Ser(UCN)) gene. This mutation was not found in 661 controls, is well con...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Hutchin, T., Parker, M., Young, I., Davis, A., Pulleyn, L., Deeble, J., Lench, N., Markham, A., Mueller, R.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BMJ Group 2000
Θέματα:
Short Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734692/
https://ncbi.nlm.nih.gov/pubmed/10978361
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.9.692
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια