Assessment of CFTR function in homozygous R117H-7T subjects

Journal of Cystic Fibrosis

Volumn 10, Issue 5, 2011, Pages 326-332

  De Nooijer, R A ^a   Nobel, J M ^a   Arets, H G M ^b   Bot, A G ^a   van Berkhout, F Teding ^a   de Rijke, Y B ^c   de Jonge, H R ^a,d   Bronsveld, I ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

CFTR; Cystic fibrosis; ICM; NPD; R117H

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ADULT; AIRWAY; ARTICLE; CASE REPORT; CYSTIC FIBROSIS; ELECTROPHYSIOLOGY; FEMALE; FORCED EXPIRATORY VOLUME; FORCED VITAL CAPACITY; FUNCTION TEST; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTESTINAL CURRENT MEASUREMENT; INTESTINE; INTESTINE EXAMINATION; LUNG FUNCTION TEST; MALE; MALE INFERTILITY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NASAL POTENTIAL DIFFERENCE; PROTEIN FUNCTION; SWEAT TEST; SYMPTOMATOLOGY;

ADULT; BIOPSY; CHLORIDES; CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FEMALE; HOMOZYGOTE; HUMANS; INFERTILITY, MALE; INTESTINES; LUNG; MALE; MUTATION, MISSENSE; PATCH-CLAMP TECHNIQUES; SWEAT GLANDS; SWEATING;

EID: 80052462654     PISSN: 15691993     EISSN: 18735010     Source Type: Journal    
DOI: 10.1016/j.jcf.2011.03.009     Document Type: Article

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