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Results: 3

1.
Fig. 1

Fig. 1. From: Homozygosity Mapping Identifies a Bile Acid Biosynthetic Defect in an Adult with Cirrhosis of Unknown Etiology.

Pedigree of Arab-Iranian family with 3β-HSD deficiency. Generations are designated by Roman numerals and each individual within a generation is designated by a number. The arrow indicates the proband. A point denotes individuals for whom we were unable to obtain DNA. Known ages (in years) are at the upper right of each individual.

Vered Molho-Pessach, et al. Hepatology. 2012 April;55(4):1139-1145.
2.
Fig. 2

Fig. 2. From: Homozygosity Mapping Identifies a Bile Acid Biosynthetic Defect in an Adult with Cirrhosis of Unknown Etiology.

Runs of homozygosity >3 Mb in two affected and one unaffected family member. A total of 2.4 million SNPs were genotyped in the proband (III.14), an affected first cousin (III.5) and an unaffected first cousin (III.6). Regions of homozygosity >3 Mb are shown. The regions that were present in both affected family members that were not homozygous in an unaffected family member are shown in boxes. The location of the run of homozygosity that contained the causative mutation in HSD3B7 is shown by an asterisk.

Vered Molho-Pessach, et al. Hepatology. 2012 April;55(4):1139-1145.
3.
Fig. 3

Fig. 3. From: Homozygosity Mapping Identifies a Bile Acid Biosynthetic Defect in an Adult with Cirrhosis of Unknown Etiology.

The negative ion FAB-MS mass spectrum of a serum extract of a family member III.5 with a defect in bile acid synthesis caused by a deficiency in the activity of 3b-hydroxy-C27-steroid oxidoreductase established by the identification of homozygosity for a mutation in the HSD3B7 gene. The atypical bile acids with a 3β-hydroxy-Δ5- structure (highlighted by the boxes) that are the signature metabolites for this defect established biochemical confirmation of the lack of activity of the enzyme.

Vered Molho-Pessach, et al. Hepatology. 2012 April;55(4):1139-1145.

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