24. Highsmith, W. E., Jr., Burch, L. H., Zhou, Z., et al. Identification of a splice site mutation (2789 + 5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis. Hum. Mutat. 9:332-338, 1997.

25. Rootwelt, H., Berger, R., Gray, G., et al. Novel splice, missense, and nonsense mutations in the fumarylacetoacetase gene causing tyrosinemia type 1. Am. J. Hum. Genet. 55:653-658, 1994.

26. Vohl, M. C., Couture, P., Moorjani, S., et al. Rapid restriction fragment analysis for screening four point mutations of the low-density lipoprotein receptor gene in French Canadians. Hum. Mutat. 6:243-246, 1995.

27. Eiken, H. G., Odland, E., Boman, H., Skjelkvale, L., Engebretsen, L. F., and Apold, J. Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res. 19:1427-1430, 1991.

28. Friedman, K. J., Highsmith, W. E., Jr., and Silverman, L. M. Detecting multiple cystic fibrosis mutations by polymerase chain reaction-mediated site-directed mutagenesis. Clin. Chem. 37:753-755,

Was this article helpful?

0 0
My First Baby

My First Baby

Are You Prepared For Your First Baby? Endlessly Searching For Advice and Tips On What To Expect? Then You've Landed At The Right Place With All The Answers! Are you expecting? Is the time getting closer to giving birth to your first baby? So many mothers to be are completely unprepared for motherhood and the arrival of a little one, but stress not, we have all the answers you need!

Get My Free Ebook

Post a comment