Digenic HHRH Supplement.pdf (5.63 MB)

Supplemental Figure for “Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria”

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posted on 27.03.2020 by Michael Levine, Rebecca J. Gordon, Dong Li, Joshua Zaritsky, Daniel Doyle
Supplemental Figure for “Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria”

Supplemental Figure 1. Sanger sequencing of SLC34A3 and rs28434439 alternative alleles.

Sanger sequencing of subcloned DNA fragments showing mutant (A) and wild type (B) alleles, demonstrating that the SLC34A3 mutant allele and the rs28434439 alternative allele are not linked together (Panels A through H). PCR sequences from subject III-6 shows heterozygosity (T/C) for rs28434439 (Panel I) indicating presence of paternal wild type allele (A), and by extension, confirming the maternal origin of mutant SLC34A3 allele. These observations confirm the imputation results that the shared haplotype between father and mother carries the SLC34A3 mutation.

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Repurposing rifampin to reduce elevated levels of blood and urine calcium in patients with inactivating mutations of CYP24A1

National Institute of Diabetes and Digestive and Kidney Diseases

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Career Development Program in Pediatric Diabetes Research (K12) at CHOP

National Institute of Diabetes and Digestive and Kidney Diseases

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