Photosensitive Smith-Lemli-Opitz syndrome is not caused by a single gene mutation: analysis of the gene encoding 7-dehydrocholesterol reductase in five U.K. families

2005 ◽  
Vol 153 (4) ◽  
pp. 774-779 ◽  
Author(s):  
A.V. Anstey ◽  
R.M. Azurdia ◽  
L.E. Rhodes ◽  
A.D. Pearse ◽  
P.E. Bowden
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Single Gene ◽  
Gene Encoding ◽  
Single Gene Mutation ◽  
Opitz Syndrome ◽  
Gene Mutation Analysis

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia

1995 ◽  
Vol 162 (9) ◽  
pp. 464-467 ◽  
Author(s):  
Ian R Walpole ◽  
Jack Goldblatt ◽  
Deborah A Kool ◽  
Ted Edkins ◽  
Rhona Creegan ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Gene Mutation ◽  
Genetic Counselling ◽  
Mutation Analysis ◽  
Western Australia ◽  
Adenomatous Polyposis ◽  
Gene Mutation Analysis

TGFBI Gene Mutation Analysis in Families with Hereditary Corneal Dystrophies from Ukraine

2004 ◽  
Vol 218 (6) ◽  
pp. 411-414 ◽  
Author(s):  
V.M. Pampukha ◽  
G.I. Drozhyna ◽  
L.A. Livshits
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Corneal Dystrophies ◽  
Tgfbi Gene ◽  
Gene Mutation Analysis

Synaptic transmission reversibly conditioned by single-gene mutation in Drosophila melanogaster

Nature ◽  
1976 ◽  
Vol 259 (5543) ◽  
pp. 489-491 ◽  
Author(s):  
KAZUO IKEDA ◽  
SEIJI OZAWA ◽  
SUSUMU HAGIWARA
Keyword(s):  
Drosophila Melanogaster ◽  
Synaptic Transmission ◽  
Gene Mutation ◽  
Single Gene ◽  
Single Gene Mutation

scholarly journals Gene Mutation Analysis in EGFR Wild Type NSCLC Responsive to Erlotinib: Are There Features to Guide Patient Selection?

2014 ◽  
Vol 16 (1) ◽  
pp. 747-757 ◽  
Author(s):  
Paola Ulivi ◽  
Angelo Delmonte ◽  
Elisa Chiadini ◽  
Daniele Calistri ◽  
Maximilian Papi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Patient Selection ◽  
Wild Type ◽  
Gene Mutation Analysis

Gene Mutation Analysis in Determining Late Recurrence of Adenocarcinoma of the Lung

2015 ◽  
Vol 100 (2) ◽  
pp. 711-713
Author(s):  
Nobuyuki Kondo ◽  
Teruhisa Takuwa ◽  
Masaki Hashimoto ◽  
Kazue Yoneda ◽  
Seiji Matsumoto ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Late Recurrence ◽  
Adenocarcinoma Of The Lung ◽  
Gene Mutation Analysis
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