alpha-Mannosidosis Mutation Database
A database on mutations, genotypes and the clinical and molecular aspects of alpha-Mannosidosis
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Primary = 'Animal model'
Primary
1 - 4 of 4
Pos
Ascending
Mutation
Protein
Primary
Exon/Intron
#Patients
#Alleles
662
c.662G>A
p.Arg221His
Animal model
Exon 5
679
c.679C>T
p.Arg227Trp
Animal model
961
c.961T>C
p.Phe321Leu
Animal model
Exon 7
1759
c.1759_1762delCCAG
p.Q584fAlas*62
Animal model
1 - 4 of 4
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Primary Mutation Type Distribution