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

Mucopolysaccharidosis Type IVA (Morquio Syndrome A)

OMIM:253000
Mode of inheritance:Autosomal recessive
Disease classification:Endocrine, nutritional and metabolic disease


Mutations

Gene SymbolGALNS
Reference transcriptNM_000512.4
DNA Changec.901G>T
A.A. Changep.Gly301Cys
Exon/Intronexon 9
Mutation Typesubstitution
ReferenceTomatsu S, Nishioka T, Montano AM, Gutierrez MA, Pena OS, Orii KO, Sly WS, Yamaguchi S, Orii T, Paschke E, Kircher SG, Noguchi A.Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.
J Med Genet. 2004 Jul;41(7):e98.