Seven novel mutations in carbonic anhydrase II def...[Hum Mutat. 1997]

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1: Hum Mutat. 1997;9(5):383-7. Links

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

Edward A. Doisy Department of Biochemistry and Molecular Biology, St. Louis University School of Medicine, Missouri, USA.

PMID: 9143915 [PubMed - indexed for MEDLINE]

Molecular basis of human carbonic anhydrase II deficiency.
Proc Natl Acad Sci U S A. 1992 Mar 1; 89(5):1804-8.

[Proc Natl Acad Sci U S A. 1992]
Carbonic anhydrase II deficiency: single-base deletion in exon 7 is the predominant mutation in Caribbean Hispanic patients.
Am J Hum Genet. 1994 Apr; 54(4):602-8.

[Am J Hum Genet. 1994]
Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies.
Kurume Med J. 1994; 41(4):233-40.

[Kurume Med J. 1994]
Review[Carbonic anhydrase II deficiency]
Ryoikibetsu Shokogun Shirizu. 1998; (19 Pt 2):622-3.

[Ryoikibetsu Shokogun Shirizu. 1998]
Review[Carbonic anhydrase II deficiency]
Ryoikibetsu Shokogun Shirizu. 1997; (16 Pt 1):601-4.

[Ryoikibetsu Shokogun Shirizu. 1997]
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