Genotype-phenotype correlation in three homozygotes and nine compound heterozygotes for the cystic fibrosis mutation 2183AA→G shows a severe phenotype

[...]of medical treatment, he no longer has steatorrhoea or Pseudomonas infection. In most of our heterozygous patients, theCFTR gene was only partially screened for mutations using either DGGE or SSCP. [...]it is possible but unlikely that some of these patients carry a third CF mutation.

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Bibliographic Details
Published in:Journal of medical genetics 2000-04, Vol.37 (4), p.307-309
Main Authors: KILINÇ, M O, NINIS, V N, TOLUN, A, ESTIVILL, X, CASALS, T, SAVOV, A, DAGLI, E, KARAKOÇ, F, DEMIRKOL, M, HÜNER, G, ÖZKINAY, F, DEMIR, E, SECULI, J L, PENA, J, BOUSONO, C, FERRER-CALVETE, J, CALVO, C, GLOVER, G, KREMENSKI, I
Format: Article
Language:English
Subjects:
Chromosomes
Cystic fibrosis
Letters to the Editor
Mutation
Vitamin deficiency
Online Access:Get full text
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Description
Summary:[...]of medical treatment, he no longer has steatorrhoea or Pseudomonas infection. In most of our heterozygous patients, theCFTR gene was only partially screened for mutations using either DGGE or SSCP. [...]it is possible but unlikely that some of these patients carry a third CF mutation.
ISSN:0022-2593
1468-6244
DOI:10.1136/jmg.37.4.307