Thirteen cystic fibrosis patients, 12 compound heterozygous and one homozygous for the missense mutation G85E: A pancreatic sufficiency/insufficiency mutation with variable clinical presentation

Journal of Medical Genetics

Volumn 33, Issue 10, 1996, Pages 820-822

  Vazquez, Carlos ^a   Antinolo, Guillermo ^b   Casals, Teresa ^c   Dapena, Javier ^b   Elorz, Javier ^a   Seculi, Jose L ^d   Sirvent, Josep ^e   Cabanas, Rodrigo ^f   Soler, Conception ^g   Estivill, Xavier ^c  

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^c HOSPITAL DURAN I REYNALS   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e Materno Infantil University Hospital   (Spain)

^f HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^g HOSPITAL XERAL CALDE   (Spain)

Author keywords

CFTR mutations; Cystic fibrosis; G85E mutation; Phenotype

Indexed keywords

SODIUM;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CYSTIC FIBROSIS; DISEASE SEVERITY; DIZYGOTIC TWINS; FEMALE; GENOTYPE; HEIGHT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MISSENSE MUTATION; PANCREAS DISEASE; PREVALENCE; PRIORITY JOURNAL; RESPIRATORY FAILURE; SODIUM DEPLETION; SWEAT;

EID: 19244362098     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.10.820     Document Type: Article

References (11)

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