A donor splice site mutation (1811 + 1G-->C) in intron 11 of the CFTR gene identified in a patient of Macedonian origin.

Human mutation

Volumn 7, Issue 4, 1996, Pages 375-

  Petreska, L ^a   Koceva, S ^a   Efremov, G D ^a  

^a MACEDONIAN ACADEMY OF SCIENCES AND ARTS   (Macedonia)

Author keywords

[No Author keywords available]

Indexed keywords

CFTR PROTEIN, HUMAN; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CASE REPORT; CYSTIC FIBROSIS; ETHNOLOGY; FEMALE; GENETICS; HUMAN; INFANT; INTRON; MUTATION; RNA SPLICING; YUGOSLAVIA;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HUMANS; INFANT; INTRONS; MUTATION; RNA SPLICING; YUGOSLAVIA;

MLCS; MLOWN;

EID: 0029704376     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:4<375::aid-humu17>3.3.co;2-k     Document Type: Article

References (0)