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Table 1 Genotype and origin of MPS IIIC affected patients

From: Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

Patient

Origin

Allele 1*

Allele 2*

Reference

SFCP

Portugal

c.234 + 1G > A

c.234 + 1G > A

This study

SFC3

Morocco

c.234 + 1G > A

c.234 + 1G > A

[25]

SFC6

Spain

c.633 + 1G > A

c.1334T >  C

[25]

SFC7

Spain

c.372-2A > G

c.372-2A > G

[25]

SFC13

France

c.1542 + 4dupA

c.1150C > T

This study

  1. *Mutation nomenclature is based on cDNA sequence (NM_152419.2), with nucleotide +1 corresponding to the A of the ATG translation initiation codon.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172