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Fig. 2 | Journal of Translational Medicine

Fig. 2

From: Expanding the phenotypic spectrum of mutations in LRP2: a novel candidate gene of non-syndromic familial comitant strabismus

Fig. 2

Multipoint linkage analysis results and analysis of mutation c.335 A > G (p.Q112R) in LPR2. a The locus for chromosomal region 2q22.3-2q32.1. Relative order of genotyped microsatellite markers is shown at the bottom next to an ideogram of chromosome 2. b Results from multipoint linkage analysis and genetic locations for the markers genotyped. The horizontal axis represents position of Chromosome 2. The vertical axis represents LOD score. bt., between. c Sanger sequencing showing heterozygous c.335 A > G mutation in III:19 (patient) and III:12 (unaffected) respectively. Reference sequences are given at the bottom. Abbreviation: Het., heterozygous; Ref., reference. d Conservation analysis of residue p.Q112 (boxed) of LRP2 across eight species

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Journal of Translational Medicine

ISSN: 1479-5876

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