Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease
Abstract Background Mucopolysaccharidosis-IVA (Morquio A disease) is a lysosomal disorder in which the abnormal accumulation of keratan sulfate and chondroitin-6-sulfate is consequent to mutations in the galactosamine-6-sulfatase (GALNS) gene. Since standard DNA sequencing analysis fails to detect a...
Gespeichert in:
Hauptverfasser: | , , , , , , , , , , , , |
---|---|
Format: | Buch |
Veröffentlicht: |
BMC,
2018-10-01T00:00:00Z.
|
Schlagworte: | |
Online-Zugang: | Connect to this object online. |
Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Online
Connect to this object online.3rd Floor Main Library
Signatur: |
A1234.567 |
---|---|
Exemplar 1 | Verfügbar |