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

American Journal of Kidney Diseases

Volumn 29, Issue 1, 1997, Pages 36-44

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

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b NONE

Author keywords

alanine:glyoxylate aminotransferase deficiency; nephrocalcinosis, calcium oxalate; Primary hyperoxaluria type 1, genetics; urolithiasis, calcium oxalate

Indexed keywords

CALCIUM OXALATE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; DISEASE SEVERITY; GENETIC COUNSELING; HUMAN; HYPEROXALURIA; KIDNEY CALCIFICATION; UROLITHIASIS;

EID: 0031033015     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0272-6386(97)90006-8     Document Type: Article

References (27)

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