A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: Lack of relationship between genotype, enzymic phenotype, and disease severity-Reference-Cited by-同舟云学术

A vertical (pseudodominant) pattern of inheritance in the autosomal recessive disease primary hyperoxaluria type 1: Lack of relationship between genotype, enzymic phenotype, and disease severity

Published:1997-01 Issue:1 Volume:29 Page:36-44
ISSN:0272-6386
Container-title:American Journal of Kidney Diseases
language:en
Short-container-title:American Journal of Kidney Diseases

Author:

Hoppe B.,Danpure C.J.,Rumsby G.,Fryer P.,Jennings P.R.,Blau N.,Schubiger G.,Neuhaus T.,Leumann E.

Publisher

Elsevier BV

Subject

Nephrology

Reference27 articles.

1. Primary hyperoxaluria;Danpure,1995

2. Characterization and chromosomal mapping of a genomic clone encoding human alanine: glyoxylate aminotransferase;Purdue;Genomics,1991

3. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type 1 (WS1) locus (PAX3 gene);Lu-Kuo;Genomics,1993

4. Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity;Danpure;J Inherit Metab Dis,1994

5. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: Peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria;Danpure;J Cell Biol,1989

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