Výsledky vyhledávání - "Arlan L. Rosembloom"

The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

Autor: Jaime Guevara-Aguirre, Alexander A. L. Jorge, Ivo J.P. Arnhold, Arlan L. Rosembloom, Vivian Hwa, Cintia Fridman, Fernanda de Toledo Gonçalves, Emilia M. Pinto, Ron G. Rosenfeld, Zvi Laron, Durval Damiani, Fernando Cassorla, Theresa S. Soares Lins, Orit Shevah

Publikováno v: American Journal of Medical Genetics Part A. 164:1204-1208

Laron syndrome (LS) is a genetic disorder caused by mutations in the growth hormone receptor (GHR) gene. The most frequent GHR mutation is E180splice (rs121909360), which was initially found in an inbred population of Spanish descent in Ecuador and s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0667270cac4474a2f68895224d116345
https://doi.org/10.1002/ajmg.a.36444

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