Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis.
Hu
P Y
PY
Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, Missouri, USA.
Lim
E J
EJ
Ciccolella
J
J
Strisciuglio
P
P
Sly
W S
WS
D002256:Carbonic Anhydrases / Q000172:deficiency* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D013577:Syndrome
D002256:Carbonic Anhydrases