Results: 3

1.
Figure  2

Figure 2. From: A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies).

Marker haplotypes in the 17q24 region of disease chromosomes from Gypsy families with galactokinase deficiency. Radiation-hybrid mapping (high-resolution TNG panel) placed the GK1 gene in very close proximity to D17S1839.

Luba Kalaydjieva, et al. Am J Hum Genet. 1999 November;65(5):1299-1307.
2.
Figure  3

Figure 3. From: A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies).

Secondary-structure prediction for the wild-type galactokinase protein and the V32M and P28T mutants, using the PHDsec algorithm. A selection of the first 60 amino acids is shown. E=extended sheet (beta sheet); H=helix; L=loop. The prediction is meaningful for all residues with an expected average correlation >.69.

Luba Kalaydjieva, et al. Am J Hum Genet. 1999 November;65(5):1299-1307.
3.
Figure  1

Figure 1. From: A Founder Mutation in the GK1 Gene Is Responsible for Galactokinase Deficiency in Roma (Gypsies).

Romani family with galactokinase deficiency. The proband P.P.V. (individual 4-3) was detected by the neonatal screening program, whereas the two affected cousins, K.N.S (individual 4-7) and K.P.T. (individual 4-11), were born before the initiation of the screening and after the discontinuation of its hypergalactosemia component, respectively. Individual 4-5 reported a history of infantile cataracts and was found to be homozygous for the P28T mutation; her erythrocyte galactokinase activity was in the intermediate range.

Luba Kalaydjieva, et al. Am J Hum Genet. 1999 November;65(5):1299-1307.

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