Zobrazeno 1 - 2
of 2
pro vyhledávání: '"L H, Burch"'
Autor:
W E, Highsmith, K J, Friedman, L H, Burch, A, Spock, L M, Silverman, R C, Boucher, M R, Knowles
Publikováno v:
Clinical genetics. 68(1)
Autor:
W E, Highsmith, L H, Burch, Z, Zhou, J C, Olsen, T V, Strong, T, Smith, K J, Friedman, L M, Silverman, R C, Boucher, F S, Collins, M R, Knowles
Publikováno v:
Human mutation. 9(4)
A splicing mutation was identified at the +5 position of the splice donor site of exon 14b of CFTR in CF patients in a consanguineous family that is remarkable for unusually mild disease. Quantitative studies of nasal epithelial mRNA revealed that ho