Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Schindler disease, type I

OMIM:609241
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolNAGA
Reference transcriptNM_000262.2
DNA Changec.973G>A
A.A. Changep.Glu325Lys
Exon/Intronexon 8
Mutation Typesubstitution
ReferenceBakker HD, de Sonnaville ML, Vreken P, Abeling NG, Groener JE, Keulemans JL, van Diggelen OP.Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
Eur J Hum Genet. 2001 Feb;9(2):91-6.