alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Exon/Intron = 'Exon 1'
Exon/Intron
1 - 2 of 2
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
152
c.152delG
p.Gly51Aspfs*13
Deletion
Exon 1
1
2
157
c.157G>T
p.Glu53*
Nonsense
Exon 1
1 - 2 of 2
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Primary Mutation Type Distribution