A1ATVar: A relational database of human SERPINA1 gene variants leading to α1-antitrypsin deficiency and application of the VariVis software

Human Mutation

Volumn 30, Issue 3, 2009, Pages 308-313

  Zaimidou, Sophia ^a   Van Baal, Sjozef ^a   Smith, Timothy D ^b   Mitropoulos, Konstantinos ^c   Ljujic, Mila ^d   Radojkovic, Dragica ^d   Cotton, Richard G ^b   Patrinos, George P ^a,c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c Asclepion Genetics ^*  (Switzerland)

^d INSTITUTE OF MOLECULAR GENETICS AND GENETIC ENGINEERING   (Serbia)

Author keywords

1 antitrypsin deficiency; AAT; Experimental protocols; Mutations; Populations; Relational database; SERPINA1; Visualization tool

Indexed keywords

ALPHA 1 ANTITRYPSIN; DNA; NEUROSERPIN; SERPINA1 PROTEIN, HUMAN;

ALLELE; ALPHA 1 ANTITRYPSIN DEFICIENCY; ARTICLE; COMPUTER PROGRAM; DATA BASE; GENE FREQUENCY; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOTYPE; MEDICAL INFORMATION; MEDICAL LITERATURE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; GENETIC DATABASE; GENETICS; HUMAN; INTERNET; MUTATION; PATHOLOGY;

ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; BASE SEQUENCE; DATABASES, GENETIC; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; HUMANS; INTERNET; MUTATION; PHENOTYPE; SOFTWARE;

EID: 61649086681     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20857     Document Type: Article

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