Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family

Journal of Pediatrics

Volumn 132, Issue 4, 1998, Pages 717-720

  Strisciuglio, P ^a   Hu, P Y ^a   Lim, E J ^a   Ciccolella, J ^a   Sly, W S ^a  

^a UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CARBONATE DEHYDRATASE II; DNA;

ADOLESCENT; ALBERS SCHOENBERG DISEASE; ARTICLE; BRAIN CALCIFICATION; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFICIENCY; FETUS; GENE MUTATION; GENETIC HETEROGENEITY; HEMOLYSATE; HUMAN; HUMAN CELL; ITALY; KIDNEY TUBULE ACIDOSIS; MALE; MENTAL DEFICIENCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0031900138     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70367-1     Document Type: Article

References (13)

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