Fig. 2 | Human Genome Variation

Fig. 2

From: A new case of spastic paraplegia type 64 due to a missense mutation in the ENTPD1 gene

Fig. 2

Electropherograms showing the co-segregation of the homozygous mutation c.401T>G in the ENTPD1 gene to the phenotype observed in proband and her sister. Proband II.1 and her sister II.2 are carrying homozygous alleles (G/G) linked to the phenotype whereas non-affected parents (father I.1 and mother I.2) are carrying heterozygous alleles (G/T). Location of mutation highlighted in grey

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