Homozygous CFTR mutation M348K in a boy with respiratory symptoms and failure to thrive. Disease-causing mutation or benign alteration?

European Journal of Pediatrics

Volumn 171, Issue 7, 2012, Pages 1039-1046

  Hentschel, Julia ^a   Riesener, Gabriele ^a   Nelle, Heike ^a   Stuhrmann, Manfred ^b   Schöner, Anja ^b   Sommerburg, Olaf ^c   Fritzsching, Eva ^c   Mall, Marcus A ^c   Von Eggeling, Ferdinand ^a   Mainz, Jochen G ^a  

^a JENA UNIVERSITY HOSPITAL   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

CFTR; Cystic fibrosis; Homozygous; M348K; MutationTaster

Indexed keywords

AMILORIDE; CARBACHOL; CHLORIDE ION; DNA; FORSKOLIN; INDOMETACIN; ISOBUTYLMETHYLXANTHINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CASE REPORT; CYSTIC FIBROSIS; FAILURE TO THRIVE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; INFANT; MALE; NECROTIZING ENTEROCOLITIS; POLYMERASE CHAIN REACTION; PREMATURITY; PRIORITY JOURNAL; RECTUM MUCOSA; RESPIRATORY TRACT DISEASE; SWEAT TEST;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; FAILURE TO THRIVE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, PREMATURE; INFANT, PREMATURE, DISEASES; MALE; POINT MUTATION; RESPIRATORY INSUFFICIENCY;

EID: 84863775144     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-012-1672-1     Document Type: Article

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