Collins FS - Search Results

1

Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Strong TV, Smit LS, Nasr S, Wood DL, Cole JL, Iannuzzi MC, Stern RC, Collins FS. Strong TV, et al. Among authors: collins fs. Hum Mutat. 1992;1(5):380-7. doi: 10.1002/humu.1380010506. Hum Mutat. 1992. PMID: 1284540 Free article.

2

Reverse genetics and cystic fibrosis.

Iannuzzi MC, Collins FS. Iannuzzi MC, et al. Among authors: collins fs. Am J Respir Cell Mol Biol. 1990 Apr;2(4):309-16. doi: 10.1165/ajrcmb/2.4.309. Am J Respir Cell Mol Biol. 1990. PMID: 1691007 Review.

3

Chloride conductance expressed by delta F508 and other mutant CFTRs in Xenopus oocytes.

Drumm ML, Wilkinson DJ, Smit LS, Worrell RT, Strong TV, Frizzell RA, Dawson DC, Collins FS. Drumm ML, et al. Among authors: collins fs. Science. 1991 Dec 20;254(5039):1797-9. doi: 10.1126/science.1722350. Science. 1991. PMID: 1722350

4

Two frameshift mutations in the cystic fibrosis gene.

Iannuzzi MC, Stern RC, Collins FS, Hon CT, Hidaka N, Strong T, Becker L, Drumm ML, White MB, Gerrard B, et al. Iannuzzi MC, et al. Among authors: collins fs. Am J Hum Genet. 1991 Feb;48(2):227-31. Am J Hum Genet. 1991. PMID: 1990834 Free PMC article.

5

Localization of cystic fibrosis transmembrane conductance regulator mRNA in the human gastrointestinal tract by in situ hybridization.

Strong TV, Boehm K, Collins FS. Strong TV, et al. Among authors: collins fs. J Clin Invest. 1994 Jan;93(1):347-54. doi: 10.1172/JCI116966. J Clin Invest. 1994. PMID: 7506713 Free PMC article.

6

Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient.

Nasr SZ, Strong TV, Collins FS. Nasr SZ, et al. Among authors: collins fs. Hum Mol Genet. 1994 Nov;3(11):2063-4. Hum Mol Genet. 1994. PMID: 7533026 No abstract available.

7

An African-American cystic fibrosis patient homozygous for a novel frameshift mutation associated with reduced CFTR mRNA levels.

Smit LS, Nasr SZ, Iannuzzi MC, Collins FS. Smit LS, et al. Among authors: collins fs. Hum Mutat. 1993;2(2):148-51. doi: 10.1002/humu.1380020217. Hum Mutat. 1993. PMID: 7686423 Free article. No abstract available.

8

Molecular basis of defective anion transport in L cells expressing recombinant forms of CFTR.

Yang Y, Devor DC, Engelhardt JF, Ernst SA, Strong TV, Collins FS, Cohn JA, Frizzell RA, Wilson JM. Yang Y, et al. Among authors: collins fs. Hum Mol Genet. 1993 Aug;2(8):1253-61. doi: 10.1093/hmg/2.8.1253. Hum Mol Genet. 1993. PMID: 7691345

9

Functional roles of the nucleotide-binding folds in the activation of the cystic fibrosis transmembrane conductance regulator.

Smit LS, Wilkinson DJ, Mansoura MK, Collins FS, Dawson DC. Smit LS, et al. Among authors: collins fs. Proc Natl Acad Sci U S A. 1993 Nov 1;90(21):9963-7. doi: 10.1073/pnas.90.21.9963. Proc Natl Acad Sci U S A. 1993. PMID: 7694298 Free PMC article.

10

An alternatively-spliced mRNA in the carboxy terminus of the neurofibromatosis type 1 (NF1) gene is expressed in muscle.

Gutman DH, Andersen LB, Cole JL, Swaroop M, Collins FS. Gutman DH, et al. Among authors: collins fs. Hum Mol Genet. 1993 Jul;2(7):989-92. doi: 10.1093/hmg/2.7.989. Hum Mol Genet. 1993. PMID: 8364582

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