PNPT1

Polyribonucleotide nucleotidyltransferase 1
87178

 

Spinocerebellar ataxia 25 – 608703

Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration – 614934

Combined oxidative phosphorylation deficiency 13 – 614932

 

DNA onderzoek is hier aan te vragen:

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