Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis
To the Editor: In a recent article Hamosh and Corey of the Cystic Fibrosis Genotype-Phenotype Consortium (Oct. 28 issue) 1 reported on correlations between the genotypes and phenotypes of patients with cystic fibrosis. The mean age of the patients with the R117H/ΔF 508 genotype was 23.5 years, and t...
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| Veröffentlicht in: | The New England journal of medicine 1994-03, Vol.330 (12), p.865-867 |
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| container_title | The New England journal of medicine |
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| creator | Gan, K H Heijerman, H G Bakker, W |
| description | To the Editor:
In a recent article Hamosh and Corey of the Cystic Fibrosis Genotype-Phenotype Consortium (Oct. 28 issue)
1
reported on correlations between the genotypes and phenotypes of patients with cystic fibrosis. The mean age of the patients with the R117H/ΔF
508
genotype was 23.5 years, and the ages of the other groups ranged from 11.0 to 14.6 years. The authors conclude that genotype is predictive of pancreatic status but not of the severity of pulmonary disease.
In our adult patient population, however, we found a correlation between the genotype and the severity of pulmonary disease. The rate of decline . . . |
| doi_str_mv | 10.1056/NEJM199403243301216 |
| format | Article |
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In a recent article Hamosh and Corey of the Cystic Fibrosis Genotype-Phenotype Consortium (Oct. 28 issue)
1
reported on correlations between the genotypes and phenotypes of patients with cystic fibrosis. The mean age of the patients with the R117H/ΔF
508
genotype was 23.5 years, and the ages of the other groups ranged from 11.0 to 14.6 years. The authors conclude that genotype is predictive of pancreatic status but not of the severity of pulmonary disease.
In our adult patient population, however, we found a correlation between the genotype and the severity of pulmonary disease. The rate of decline . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM199403243301216</identifier><identifier>PMID: 8114850</identifier><language>eng</language><publisher>United States: Massachusetts Medical Society</publisher><subject>Adolescent ; Adult ; Child ; Cystic Fibrosis - genetics ; Female ; Genotype ; Humans ; Mutation ; Phenotype</subject><ispartof>The New England journal of medicine, 1994-03, Vol.330 (12), p.865-867</ispartof><rights>Copyright © 1994 Massachusetts Medical Society. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c374t-8f8c9aaf631e6d25b12e06bc1beca82dd4bfd3c82d26a8580ea53977ec9ea7943</citedby><cites>FETCH-LOGICAL-c374t-8f8c9aaf631e6d25b12e06bc1beca82dd4bfd3c82d26a8580ea53977ec9ea7943</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJM199403243301216$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJM199403243301216$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,780,784,2759,2760,26103,27924,27925,52382,54064,64387</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8114850$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gan, K H</creatorcontrib><creatorcontrib>Heijerman, H G</creatorcontrib><creatorcontrib>Bakker, W</creatorcontrib><title>Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>To the Editor:
In a recent article Hamosh and Corey of the Cystic Fibrosis Genotype-Phenotype Consortium (Oct. 28 issue)
1
reported on correlations between the genotypes and phenotypes of patients with cystic fibrosis. The mean age of the patients with the R117H/ΔF
508
genotype was 23.5 years, and the ages of the other groups ranged from 11.0 to 14.6 years. The authors conclude that genotype is predictive of pancreatic status but not of the severity of pulmonary disease.
In our adult patient population, however, we found a correlation between the genotype and the severity of pulmonary disease. The rate of decline . . .</description><subject>Adolescent</subject><subject>Adult</subject><subject>Child</subject><subject>Cystic Fibrosis - genetics</subject><subject>Female</subject><subject>Genotype</subject><subject>Humans</subject><subject>Mutation</subject><subject>Phenotype</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9UMlOwzAQtRColMIXICSfuKCAtzj2EVVtWQr0AOfIcSaqq8Qpsauqf09QCyfEXGZGb9HTQ-iSkltKUnn3Onl6oVoLwpngnFBG5REa0pTzRAgij9GQEKYSkWl-is5CWJF-qNADNFCUCpWSIXoet10HtYmu9biAuAXweAa-jbs1YONLvFj-fM7jRU8EHwPeurjE412IzuKpK7o2uHCOTipTB7g47BH6mE7exw_J_G32OL6fJ5ZnIiaqUlYbU0lOQZYsLSgDIgtLC7BGsbIURVVy219MGpUqAiblOsvAajCZFnyErve-66793ECIeeOChbo2HtpNyDPJM8Y064l8T7R9vtBBla8715hul1OSf1eY_1Fhr7o62G-KBspfzaGzHr_Z400Tcg-r5l-3L2XSeQk</recordid><startdate>19940324</startdate><enddate>19940324</enddate><creator>Gan, K H</creator><creator>Heijerman, H G</creator><creator>Bakker, W</creator><general>Massachusetts Medical Society</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>19940324</creationdate><title>Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis</title><author>Gan, K H ; Heijerman, H G ; Bakker, W</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c374t-8f8c9aaf631e6d25b12e06bc1beca82dd4bfd3c82d26a8580ea53977ec9ea7943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Child</topic><topic>Cystic Fibrosis - genetics</topic><topic>Female</topic><topic>Genotype</topic><topic>Humans</topic><topic>Mutation</topic><topic>Phenotype</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gan, K H</creatorcontrib><creatorcontrib>Heijerman, H G</creatorcontrib><creatorcontrib>Bakker, W</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gan, K H</au><au>Heijerman, H G</au><au>Bakker, W</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>1994-03-24</date><risdate>1994</risdate><volume>330</volume><issue>12</issue><spage>865</spage><epage>867</epage><pages>865-867</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><abstract>To the Editor:
In a recent article Hamosh and Corey of the Cystic Fibrosis Genotype-Phenotype Consortium (Oct. 28 issue)
1
reported on correlations between the genotypes and phenotypes of patients with cystic fibrosis. The mean age of the patients with the R117H/ΔF
508
genotype was 23.5 years, and the ages of the other groups ranged from 11.0 to 14.6 years. The authors conclude that genotype is predictive of pancreatic status but not of the severity of pulmonary disease.
In our adult patient population, however, we found a correlation between the genotype and the severity of pulmonary disease. The rate of decline . . .</abstract><cop>United States</cop><pub>Massachusetts Medical Society</pub><pmid>8114850</pmid><doi>10.1056/NEJM199403243301216</doi><tpages>3</tpages></addata></record> |
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| ispartof | The New England journal of medicine, 1994-03, Vol.330 (12), p.865-867 |
| issn | 0028-4793 1533-4406 |
| language | eng |
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| source | MEDLINE; New England Journal of Medicine Current; EZB-FREE-00999 freely available EZB journals; ProQuest Central UK/Ireland |
| subjects | Adolescent Adult Child Cystic Fibrosis - genetics Female Genotype Humans Mutation Phenotype |
| title | Correlation between Genotype and Phenotype in Patients with Cystic Fibrosis |
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