Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene (Q24319125)

Europe PubMed Central

title

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene (English)

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main subject

galactosidase alpha

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GOA release 2020-03-11

hydrolase activity

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Exon definition may facilitate splice site selection in RNAs with multiple exons

GOA release 2020-03-11

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2

R J Desnick

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author name string

C M Eng

series ordinal

1

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language of work or name

English

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publication date

1994

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published in

Human Mutation

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volume

3

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issue

2

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page(s)

103-11

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cites work

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