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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

Fig. 1

It shows haplotype analysis of the investigated families. a, b & c The affected Childs (P1, P2 & P3) showed autozygosity for STR markers flanking of SLC37A4 gene which mutation analysis revealed c.1042_1043delCT mutation. d The affected child (P4) showed autozygosity for STR markers flanking of SLC37A4 gene which mutation analysis revealed c.365G > A mutation. e The affected siblings (P5–1 & P5–2) showed autozygosity for STR markers flanking of the SLC37A4 gene which mutation analysis revealed a large deletion

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172