| Amino acid stereocenter < Amino acid substitution < Amino acid substitutions | Facettes : |
List of bibliographic references
Number of relevant bibliographic references: 2.| Ident. | Authors (with country if any) | Title |
|---|---|---|
| 001275 (2002) | R. Pfützer [États-Unis] ; E. Myers [États-Unis] ; S. Applebaum-Shapiro [États-Unis] ; R. Finch [États-Unis] ; I. Ellis [Royaume-Uni] ; J. Neoptolemos [Royaume-Uni] ; J A Kant [États-Unis] ; D C Whitcomb [États-Unis] | Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis |
| 003266 (2012) | Priyanka Ghosh [Inde] ; Pranami Bhaumik [Inde] ; Sujoy Ghosh [Inde] ; Umut Ozbek [États-Unis] ; Eleanor Feingold [États-Unis] ; Cheryl Maslen [États-Unis] ; Biswanath Sarkar [Inde] ; Vishmadeb Pramanik [Inde] ; Priyanka Biswas [Inde] ; Biswajit Bandyopadhyay [Inde] ; Subrata Kumar Dey [Inde] | Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect |
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