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

Journal of Medical Genetics

Volumn 37, Issue 4, 2000, Pages 307-309

  Kilinc, M O ^a   Ninis, V N ^a   Tolun, A ^a   Estivill, X ^a   Casals, T ^a   Savov, A ^a   Dagli, E ^a   Karakoc, F ^a   Demirkol, M ^a   Huner, G ^a   Ozkinay, F ^a   Demir, E ^a   Seculi, J L ^a   Pena, J ^a   Bousono, C ^a   Ferrer Calvete, J ^a   Calvo, C ^a   Glover, G ^a   Kremenski, I ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CHILD; CLINICAL ARTICLE; CYSTIC FIBROSIS; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; LETTER; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; POINT MUTATION;

EID: 0034012388     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (15)