CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

Ada Hamosh; Beryl J. Rosenstein; Garry R. Cutting

doi:10.1093/hmg/1.7.542

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

Ada Hamosh, Beryl J. Rosenstein, Garry R. Cutting

School of Medicine

Research output: Contribution to journal › Comment/debate › peer-review

78 Scopus citations

Original language	English (US)
Pages (from-to)	542-544
Number of pages	3
Journal	Human molecular genetics
Volume	1
Issue number	7
DOIs	https://doi.org/10.1093/hmg/1.7.542
State	Published - Oct 1992

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/1.7.542

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@article{ffc6978fdb9640a8b7772e49fa1be962,

title = "CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells",

author = "Ada Hamosh and Rosenstein, {Beryl J.} and Cutting, {Garry R.}",

note = "Funding Information: The authors thank Dr. Joanna Rommens for the sample of CFTR plasmid DNA, Dr Arthur Beaudet for genomic DNA from a G542X homozygote, Dr Bat-Sheva Kerem for the 542X and 542NL ASOs, and Dr Iain Mclntosh for advice. This study was supported by funds from the NIDDK and the CF Foundation; GRC is a Merck Clinician Scientist.",

year = "1992",

month = oct,

doi = "10.1093/hmg/1.7.542",

language = "English (US)",

volume = "1",

pages = "542--544",

journal = "Human molecular genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

number = "7",

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TY - JOUR

T1 - CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

AU - Hamosh, Ada

AU - Rosenstein, Beryl J.

AU - Cutting, Garry R.

N1 - Funding Information: The authors thank Dr. Joanna Rommens for the sample of CFTR plasmid DNA, Dr Arthur Beaudet for genomic DNA from a G542X homozygote, Dr Bat-Sheva Kerem for the 542X and 542NL ASOs, and Dr Iain Mclntosh for advice. This study was supported by funds from the NIDDK and the CF Foundation; GRC is a Merck Clinician Scientist.

PY - 1992/10

Y1 - 1992/10

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U2 - 10.1093/hmg/1.7.542

DO - 10.1093/hmg/1.7.542

M3 - Comment/debate

C2 - 1284888

AN - SCOPUS:0026937999

SN - 0964-6906

VL - 1

SP - 542

EP - 544

JO - Human molecular genetics

JF - Human molecular genetics

IS - 7

ER -

CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells

ASJC Scopus subject areas

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