Genotype-phenotype correlation in three homozygotes for the cystic fibrosis mutation 2183AA-->G shows a severe phenotype.
| Autoři: | Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I |
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| Zdroj: | Journal of medical genetics [J Med Genet] 2000 Apr; Vol. 37 (4), pp. 307-9. |
| Způsob vydávání: | Case Reports; Letter |
| Jazyk: | English |
| Informace o časopise: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: London : British Medical Association |
| Výrazy ze slovníku MeSH: | Cystic Fibrosis/*genetics , Cystic Fibrosis Transmembrane Conductance Regulator/*genetics, Female ; Genotype ; Heterozygote ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Phenotype ; Point Mutation |
| Substance Nomenclature: | 0 (CFTR protein, human) 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator) |
| Entry Date(s): | Date Created: 20000520 Date Completed: 20000516 Latest Revision: 20190503 |
| Update Code: | 20240829 |
| PubMed Central ID: | PMC1734561 |
| DOI: | 10.1136/jmg.37.4.307 |
| PMID: | 10819640 |
| Autor: | Kilinç MO, Ninis VN, Tolun A, Estivill X, Casals T, Savov A, Dagli E, Karakoç F, Demirkol M, Hüner G, Ozkinay F, Demir E, Seculi JL, Pena J, Bousono C, Ferrer-Calvete J, Calvo C, Glover G, Kremenski I |
| Jazyk: | angličtina |
| Zdroj: | Journal of medical genetics [J Med Genet] 2000 Apr; Vol. 37 (4), pp. 307-9. |
| DOI: | 10.1136/jmg.37.4.307 |
| Databáze: | MEDLINE |
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