Variation in a repeat sequence determines wheter a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

Variation in a repeat sequence determines wheter a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

Groman JD; Hefferon TW; Casals T; Bassas L; Estivill X; Des Georges M; Koudova M; Fallin MD; Németh, Krisztina; Fekete, György; Kádasi, Lajos; Friedman K; Schwarz M; Bombieri C; Pignatti GF; Kanavakis E; Tzetis M; Schwartz M; Novelli G; D Apice MR; Sobczynska-Tomaszewska A; Bal J; Stuhrmann M; Macek M Jr; Claustres M; Cutting GR

Folyóiratcikk

AMERICAN JOURNAL OF HUMAN GENETICS vol.:74, issue.:1, p.:176-179.

ISSN: 0002-9297

URI: http://repo.lib.semmelweis.hu//handle/123456789/4851
http://dx.doi.org/10.1086/381001

MTMT azonosító: 1257489

WoS ID: 000187723500017

PubMed ID: 14685937

Megjelenés éve: 2004

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