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Tags: Kaftory A

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A Splicing Mutation In The Cytochrome B(5) Gene From A Patient With Congenital Methemoglobinemia And Pseudohermaphrodism

Tags: 1994, deficiency, enzyme, Genetics & Heredity, Giordano S J, hereditary methemoglobinemia, Human genetics, human-liver, Kaftory A, Microsomes, RNA, Steggles A W

A splicing mutation in the cytochrome b5 gene from a patient with congenital methemoglobinemia and pseudohermaphrodism.

We have analyzed reticulocyte and leukocyte mRNAs isolated from a patient with congenital methemoglobinemia and pseudohermaphrodism. The cytochrome b5 cDNA sequences were amplified using specific oligonucleotide primers and the polymerase chain…

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