Article
A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes.
Blood cells, molecules & diseases - 1 Dec 2000
Iancovici-Kidon M, Sthoeger D, Abrahamov A, Wolach B, Beutler E, Gelbart T, Barak Y, Volach B
Abstract excerpt
Hereditary nonspherocytic hemolytic anemia (HNSHA) is a rare manifestation of glucose-6-phosphate dehydrogenase (G6PD) gene mutations, caused mainly by mutations located in exon 10 of the G6PD gene and less commonly by mutations in other parts of the gene. A new, exon 9, single-base mutation representing a T --> C transition at cDNA nucleotide 964 was found in three brothers and their carrier mother of Jewish...
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