Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

Milan Macek; Ada Hamosh; Sandra Kiesewetter; Iain McIntosh; Beryl J. Rosenstein; Garry R. Cutting

doi:10.1002/humu.1380010608

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

Milan Macek, Ada Hamosh, Sandra Kiesewetter, Iain McIntosh, Beryl J. Rosenstein, Garry R. Cutting

School of Medicine

Research output: Contribution to journal › Article › peer-review

11 Scopus citations

Original language	English (US)
Pages (from-to)	501-502
Number of pages	2
Journal	Human mutation
Volume	1
Issue number	6
DOIs	https://doi.org/10.1002/humu.1380010608
State	Published - 1992

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome",

author = "Milan Macek and Ada Hamosh and Sandra Kiesewetter and Iain McIntosh and Rosenstein, {Beryl J.} and Cutting, {Garry R.}",

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AU - Macek, Milan

AU - Hamosh, Ada

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AU - McIntosh, Iain

AU - Rosenstein, Beryl J.

AU - Cutting, Garry R.

PY - 1992

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JO - Human mutation

JF - Human mutation

IS - 6

ER -

Identification of a novel nonsense mutation (L88X) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene in a native Korean cystic fibrosis chromosome

ASJC Scopus subject areas

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