Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Bożena Piłacik"'
Autor:
Jolanta Rujner, Bożena Piłacik, Christiane Löffler, Ioannis Giannakudis, Anna Gutkowska, Paweł Stankiewicz, Małgorzata Krajewska-Walasek, Manjunath Nimmakayalu, Ingo Hansmann, Antje Krüger
Publikováno v:
American Journal of Medical Genetics. 103:166-171
Mutations in the human gene Jagged1 (JAG1) localized in 20p12 have been recently identified as causal for the anomalies found in patients with Alagille syndrome (AGS). This gene encodes a ligand for the Notch1 transmembrane receptor, which plays a ke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4220e95aa0873d427b50a62a7522314b
https://doi.org/10.1002/ajmg.1531
https://doi.org/10.1002/ajmg.1531
Publikováno v:
Human heredity. 45(6)
Alpha-1-antitrypsin phenotypes of umbilical cord serum from 741 Polish newborns were studied by isoelectric focusing. The frequencies of the PI alleles were: PI*M1 = 0.7199, PI*M2 = 0.1613, PI*M3 = 0.0965, PI*S = 0.0094, PI*Z = 0.0067, and PI*Var(F,I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c7ae8531c6e19260b38f5635e5eb7b3
https://pubmed.ncbi.nlm.nih.gov/8537083
https://pubmed.ncbi.nlm.nih.gov/8537083