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29 research outputs found
Lymphocyte mRNA as a resource for detection of mutations and polymorphisms in the CF gene.
Author
A Harris
Berg L.P.
+9 more
Chelly J.
Chirgwin J.M.
Chromczynski P.
G Chalkley
Harris A.
Holding C.
Kerem B.S.
Kerem B.S.
Riordan JR, Rommens
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
HFE
Author
BRADLEY L.A.
FEINGOLD J.
+4 more
KEREM B.S.
KRISTIDIS P.
RYAN F.
SIMON M.
Publication venue
'Mary Ann Liebert Inc'
Publication date
Field of study
No full text
Crossref
A cystic fibrosis patient homozygous for the nonsense mutation R553X.
Author
Cuppens H.
Cutting G.R.
+11 more
Cutting G.R.
J Bal
J Reiss
J Schmidtke
Kerem B.S.
Kerem B.S.
M Schloesser
M Stuhrmann
on CF Genetics European Working Group
Riordan JR, Rommens
Rommens J.M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.
Author
A E Shrimpton
Boat T.F.
+20 more
Brind A.M.
Brock D.J.H.
Cutting G.R.
D J Brock
Dean M.
Drum M.L.
Guillermit H.
Huth A.
Hyde S.C.
I McIntosh
Kerem B.
Kerem B.S.
Kerem B.S.
McIntosh I.
Rich D.P.
Riordan JR, Rommens
Rosenbloom C.R.
Vidaud M.
Wagner D.K.
White M.B.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Cystic fibrosis mutations delta F508 and G542X in Jewish patients.
Author
Balassopoulou A.
Cremonesi L.
+17 more
Cutting G.R.
D Abeliovich
Feldman G.L.
G R Cutting
I Lerer
Kerem B.S.
Kerem B.S.
Lemna W.K.
Lerer I.
M Sagi
McIntosh I.
Riordan JR, Rommens
Rosenbloom R.
Santis G.
Tsui L.C.
Vidaud M.
Voss R.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.
Author
Anderson M.P.
Beaudet A.L.
+24 more
Chomczynski P.
Cuppens H.
Cutting G.R.
Cutting G.R.
Frizell R.A.
J Reiss
J Schmidtke
K Will
Kadowaki T.
Kartner N.
Kerem B.S.
Kerem B.S.
Kerem E.
M Dean
M Schlosser
M Stuhrmann
Noonan K.E.
Petersen C.
R Slomski
Riordan JR, Rommens
Stuhrmann M.
Urlaub G.M.
Vidaud M.
Will K.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
A mutation in exon 7 of the CFTR gene is common in the western part of France.
Author
B Mercier
Boat T.F.
+7 more
C Ferec
Ferec C.
H Guillermit
Kerem B.S.
M P Audrezet
Riordan JR, Rommens
Rommens J.M.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Molecular biology and respiratory disease. I-- Basic principles.
Author
Ackerman A.D.
C A Owen
+10 more
Kerem B.S.
Kidd V.J.
Olsen D.R.
Ou C.Y.
R A Stockley
Riordan JR, Rommens
Shibata D.K.
Sifers R.N.
Wewers D.M.
Whang-Peng J.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Severity of chest disease in cystic fibrosis patients in relation to their genotypes.
Author
A L Meredith
Chrispin A.R.
+17 more
Dean M.
G Owen
Goodchild M.C.
H C Ryley
J P Cheadle
Johansen H.K.
Kerem B.S.
Kerem E.
Keston M.
L N al-Jader
M C Goodchild
P S Harper
Riordan JR, Rommens
Rommens J.M.
S Maguire
Santis G.
Santis G.
Publication venue
'BMJ'
Publication date
Field of study
No full text
Crossref
Identification of Novel Mutations of the CFTR Gene in a Japanese Patient with Cystic Fibrosis.
Author
Farrell P.M. &
Gregg R.G., Simantel, A., Farrell, P.M., Koscik, R., Kosorok, M.R., Laxova, A., Laessig, R., Hoffman, G., Hassemer, D., Mischler, E.H. &
+3 more
Hojo S., Fujita, J., Miyawaki, H., Obayashi, Y., Takahara, J. &
Kerem E., Corey, M., Kerem, B.S., Rommens, J., Markiewicz, D., Levison, H., Tsui, L.C. &
Welsh M.J., Tsui, L.C., Boat, T.F., Beaudet, A.L., Sly, W.S. &
Publication venue
'Tohoku University Medical Press'
Publication date
01/01/1999
Field of study
No full text
Crossref
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