Molecular analysis of the cystinuria disease gene: identification of four new mutations, one large deletion, and one polymorphism

1996 ◽  
Vol 98 (4) ◽  
pp. 447-451 ◽  
Author(s):  
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Maria Julia Calonge ◽  
Luca Dello Strologo ◽  
Gianfranco Rizzoni ◽  
Luisa de Sanctis ◽  
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Large Deletion ◽  
Gene Identification ◽  
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Molecular Analysis of the von Hippel-Lindau Disease Gene

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Author(s):  
Allen Chernoff ◽  
Viera Kasparcova ◽  
W. Marston Linehan ◽  
Catherine A. Stolle
Keyword(s):  
Molecular Analysis ◽  
Disease Gene ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Human Gene Mapping and Disease Gene Identification

2007 ◽  
pp. 207-230
Author(s):  
Robert L. Nussbaum ◽  
Roderick R. McInnes ◽  
Huntington F. Willard ◽  
Ada Hamosh
Keyword(s):  
Gene Mapping ◽  
Disease Gene ◽  
Human Gene ◽  
Gene Identification ◽  
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scholarly journals Disease gene identification by using graph kernels and Markov random fields

2014 ◽  
Vol 57 (11) ◽  
pp. 1054-1063 ◽  
Author(s):  
BoLin Chen ◽  
Min Li ◽  
JianXin Wang ◽  
Fang-Xiang Wu
Keyword(s):  
Random Fields ◽  
Markov Random Fields ◽  
Disease Gene ◽  
Gene Identification ◽  
Graph Kernels ◽  
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An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families

2009 ◽  
Vol 132 (18) ◽  
pp. 709-711 ◽  
Author(s):  
Laura Gort ◽  
Ester Quintana ◽  
Sonia Moliner ◽  
Lidia González-Quereda ◽  
Tania López-Hernández ◽  
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Keyword(s):  
Molecular Analysis ◽  
Classical Galactosaemia ◽  
New Mutations
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