Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone

Human Genetics

Volumn 105, Issue 1-2, 1999, Pages 145-150

  Romey, Marie Catherine ^a   Guittard, Caroline ^a   Chazalette, Jean Pierre ^b   Frossard, Philippe ^c   Dawson, Kenneth P ^c   Patton, Michael A ^d   Casals, Theresa ^e   Bazarbachi, Taha ^f   Girodon, Emmanuelle ^g   Rault, Gilles ^h   Bozon, Dominique ⁱ   Seguret, Fabienne ^j   Demaille, Jacques ^a   Claustres, Mireille ^a  

^a INSTITUTE OF HUMAN GENETICS   (France)

^b Hopital Renee Sabran   (France)

^c Depts of Pathology and Pediatrics   (United Arab Emirates)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e HOSPITAL DURAN I REYNALS   (Spain)

^f CHU NANCY BRABOIS   (France)

^g HENRI MONDOR HOSPITAL   (France)

^h Marin   (France)

ⁱ HÔPITAL DEBROUSSE   (France)

^j MONTPELLIER UNIVERSITY HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CYSTIC FIBROSIS; EXON; FEMALE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MECONIUM ILEUS; MISSENSE MUTATION; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SWEAT TEST;

ALLELES; CHILD; CHILD, PRESCHOOL; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; GENOTYPE; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; POINT MUTATION; PROGNOSIS; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 0032764573     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051077     Document Type: Article

References (20)

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