Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

BioMed Research International

Volumn 2016, Issue , 2016, Pages

  Teresa Rodrigo, María E ^a   Eckhold, Juliane ^b   Puisac, Beatriz ^a   Pozojevic, Jelena ^b   Parenti, Ilaria ^b,c   Baquero Montoya, Carolina ^a,d   Gil Rodríguez, María C ^a   Braunholz, Diana ^b   Dalski, Andreas ^b   Hernández Marcos, María ^a   Ayerza, Ariadna ^a   Bernal, María L ^a   Ramos, Feliciano J ^a   Wieczorek, Dagmar ^e   Gillessen Kaesbach, Gabriele ^b   Pié, Juan ^a   Kaiser, Frank J ^b  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b UNIVERSITY OF LÜBECK   (Germany)

^c UNIVERSITY OF MILAN   (Italy)

^d HOSPITAL PABLO TOBÓN URIBE   (Colombia)

^e UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; NIPBL PROTEIN, HUMAN; PROTEIN;

ARTICLE; BINDING SITE; CASE REPORT; CHILD; DE LANGE SYNDROME; EVOKED AUDITORY RESPONSE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; HUMAN CELL; INTRON; MALE; NIPBL GENE; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA TRANSCRIPTION; RNA TRANSLATION; SCHOOL CHILD; SITE DIRECTED MUTAGENESIS; GENETIC HETEROGENEITY; GENETICS; HEP-G2 CELL LINE; PATHOLOGY; PEDIGREE; RNA SPLICING;

CHILD; DE LANGE SYNDROME; EXONS; FEMALE; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; HEP G2 CELLS; HUMANS; INTRONS; MALE; PEDIGREE; PROTEINS; RNA SPLICING;

EID: 84958093595     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2016/8742939     Document Type: Article

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