Seven novel mutations in carbonic anydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

Human Mutation

Volumn 9, Issue 5, 1997, Pages 383-387

  Hu, Peiyi Y ^a   Lim, E Justin ^a   Ciccolella, Jessica ^b   Strisciuglio, Pietro ^c   Sly, William S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

CARBONATE DEHYDRATASE II; DNA;

ALBERS SCHOENBERG DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME ASSAY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; KIDNEY TUBULE ACIDOSIS; MENTAL DEFICIENCY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; REVIEW; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030972636     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:5<383::AID-HUMU1>3.0.CO;2-5     Document Type: Review

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