A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

doi:10.1002/humu.1380010404

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Article

A splice junction mutation in intron 2 of the carbonic anhydrase II gene of osteopetrosis patients from Arabic countries.

Human mutation - 1 Jan 1992

Hu P Y, Roth D E, Skaggs L A, Venta P J, Tashian R E, Guibaud P, Sly W S

Abstract excerpt

Clinical manifestations in patients with carbonic anhydrase (CA) II deficiency include osteopetrosis, renal tubular acidosis, and cerebral calcification. Of the 39 reported cases of the carbonic anhydrase II deficiency syndrome, 72% were patients from North African and Middle Eastern countries, m...

Topics

Acidosis, Renal Tubular
Base Sequence
Carbonic Anhydrases
DNA
DNA Mutational Analysis
Female
Humans
Introns
Male
Middle East
Molecular Sequence Data
Osteopetrosis
Pedigree
Phenotype
RNA Splicing

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