Condition: Primary hyperoxaluria type 2


rs180177304 in GRHPR gene and Primary hyperoxaluria type 2 PMID 25629080 2015 Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

PMID 17510093 2007 A novel mutation in the GRHPR gene in a Japanese patient with primary hyperoxaluria type 2.

PMID 25644115 2015 Phenotype-Genotype Correlations and Estimated Carrier Frequencies of Primary Hyperoxaluria.

PMID 14635115 2003 Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

PMID 24116921 2014 Caucasians with PH2 should be screened for the c.103delG mutation; patients from the Indian subcontinent for c.494G>A; and patients of East Asian origin (particularly) for c.864_865delTG.

PMID 11030416 2000 Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).

PMID 11477177 2001 Primary hyperoxaluria type 2 without L-glycericaciduria: is the disease under-diagnosed?

PMID 16306119 2005 Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2.

PMID 24116921 2014 Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10484776 1999 The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II.

PMID 15327387 2004 Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

PMID 12185464 2002 Primary hyperoxaluria type 2 in children.

PMID 18560364 2008 The case: A boy with recurrent stones.