Abstract
Congenital methemoglobinemia can be caused by mutations involving five different genes. We studied the etiology and molecular biology of eight consecutive patients with methemoglobinemia. Four had b5R mutations; two were novel. A novel intronic mutation caused markedly reduced mRNA resulting in type II methemoglobinemia. Three patients had acquired methemoglobinemia without any b5R mutations.
Publication types
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Letter
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, Non-P.H.S.
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Substitution
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Cytochrome-B(5) Reductase / genetics*
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DNA Mutational Analysis
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Female
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Humans
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Introns / genetics
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Lidocaine / adverse effects
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Male
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Methemoglobinemia / chemically induced
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Methemoglobinemia / classification
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Methemoglobinemia / enzymology
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Methemoglobinemia / genetics*
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Mutation, Missense
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Point Mutation
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RNA, Messenger / genetics
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RNA, Messenger / metabolism
Substances
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RNA, Messenger
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Lidocaine
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Cytochrome-B(5) Reductase