Null ABCA3 in humans: Large homozygous ABCA3 deletion, correlation to clinical-pathological findings

Pediatric Pulmonology

Volumn 49, Issue 3, 2014, Pages

  Carrera, Paola ^a   Ferrari, Maurizio ^b   Presi, Silvia ^c   Ventura, Luisa ^d   Vergani, Barbara ^e   Lucchini, Valeria ^f   Cogo, Paola E ^g   Carnielli, Virgilio P ^h   Somaschini, Marco ^a   Tagliabue, Paolo ^d  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c Diagnostica e Ricerca San Raffaele   (Italy)

^d MBBM Foundation   (Italy)

^e UNIVERSITY OF MILANO BICOCCA   (Italy)

^f SAN GERARDO HOSPITAL   (Italy)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^h UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

Author keywords

ABCA3; molecular diagnostic testing; newborn; patient care management; respiratory distress syndrome; sequence deletion

Indexed keywords

ABCA3; MOLECULAR DIAGNOSTIC TESTING; NEWBORN; PATIENT CARE MANAGEMENT; RESPIRATORY DISTRESS SYNDROME; SEQUENCE DELETION;

ATP-BINDING CASSETTE TRANSPORTERS; BLOTTING, SOUTHERN; FATAL OUTCOME; FEMALE; GENE DELETION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LUNG DISEASES, INTERSTITIAL; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 84894268534     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.22983     Document Type: Article

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