Familial hypocholinesterasemia found in a family and a new confirmed mutation.

doi:10.2169/internalmedicine.36.9

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Article

Familial hypocholinesterasemia found in a family and a new confirmed mutation.

Internal medicine (Tokyo, Japan) - 1 Jan 1997

Liu W, Hada T, Fukui K, Imanishi H, Matsuoka N, Iwasaki A, Higashino K

Abstract excerpt

A 45-year-old man was hospitalized because of acute hepatitis. His serum cholinesterase (ChE) was below 10 IU/l (normal range: 105-240 IU/l) during the disease course and after his recovery. The patient was suspected of having familial hypocholinesterasemia. His family members were healthy except...

Topics

Adult
Aged
Amino Acid Sequence
Base Sequence
Cholinesterases
DNA
DNA Primers
Female
Heterozygote
Homozygote
Humans
Male
Middle Aged
Pedigree
Phenotype
Point Mutation
Polymerase Chain Reaction

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