A novel deletion in exon 12 (g1845delAG or g1846delGA) of the CFTR (ABCC7) gene in a CF infant presenting with meconium ileus.
Seia
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Dipartimento Medicina di Laboratorio, Settore di Genetica Molecolare. Universit¿ degli Studi di Milano e AO Istituti Clinici di Perfezionamento, Milano, Italy.
Cantù-Rajnoldi
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A
Ambrosioni
A
A
Fiori
S
S
Prandoni
S
S
Corbetta
C
C
Bassotti
A
A
Moretti
E
E
Giunta
A
A
Padoan
R
R
D000225:Adenine; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006147:Guanine; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000235:genetics; D008297:Male; D008470:Meconium; D017384:Sequence Deletion / Q000235:genetics*
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D006147:Guanine; D000225:Adenine