Rezultaty - Lucy Trombley
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Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females od Patrick J. OʼNeill, Lucy Trombley, MARY GUNDEL, Timothy C. Hunter, Janice A. Nicklas, MARA LUCIA S. FERREIRA, MARIA JULIA BUGALLO, ANTÔNIO CARLOS FARIAS, Alfredo Löhr, MERI DIAMANTOPOULOS, Salmo Raskin
Wydane 1999Artigo
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Allele
Aorta
Aortic aneurysm
Aortic valve
Bicuspid aortic valve
Biology
Cardiology
Gene
Genetics
Germline mutation
Heterozygote advantage
Hypoxanthine-guanine phosphoribosyltransferase
Internal medicine
Lesch–Nyhan syndrome
Matrix metalloproteinase
Medicine
Molecular biology
Mutant
Mutation
Thoracic aortic aneurysm
Transversion