A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients

Lignende værker

• Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
  af: Goyette, P, et al.
  Udgivet: (1995)
• Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype
  af: KILINC, M, et al.
  Udgivet: (2000)
• Diagnostic Testing by CFTR Gene Mutation Analysis in a Large Group of Hispanics: Novel Mutations and Assessment of a Population-Specific Mutation Spectrum
  af: Schrijver, Iris, et al.
  Udgivet: (2005)
• The Genetic Analysis of Cystic Fibrosis Patients With Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey
  af: Murat Erdoğan, et al.
  Udgivet: (2021-11-01)
• Is isolated idiopathic pancreatitis associated with CFTR mutations?
  af: PALLARES-RUIZ, N, et al.
  Udgivet: (2000)