Extended Data Fig. 1: Clinical features and histopathology of patients included in the study. | Nature Genetics

Extended Data Fig. 1: Clinical features and histopathology of patients included in the study.

From: Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency

Extended Data Fig. 1

(a) Genomic and clinicopathological features of patients with alpha-1 anti-trypsin (A1AT) deficiency (purple header bar, n = 5) and haemochromatosis (green header bar, n = 5) included in the study. Germline variants were called from the exome or whole genome sequencing and reported for genes previously associated with either A1AT-deficiency or haemochromatosis. (b) Example photomicrographs of serial liver sections stained for enhanced picosirius red (EPSR, upper panels), diastase-Periodic Acid Schiff (dPAS, middle panels) or Perls’ stain (lower panels) from three patients included in the study. Numbers on the panels are the dPAS granules / globules score (0–4) or hepatocellular iron deposition score (0–4) from global assessment of liver histology. Scale bars 1 mm.

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