Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with cornelia de lange syndrome

International Journal of Molecular Sciences

Volumn 15, Issue 6, 2014, Pages 10350-10364

  Teresa Rodrigo, María E ^a   Eckhold, Juliane ^b   Puisac, Beatriz ^a   Dalski, Andreas ^b   Gil Rodríguez, María C ^a   Braunholz, Diana ^b   Baquero, Carolina ^a,c   Hernández Marcos, María ^a   de Karam, Juan C ^a   Ciero, Milagros ^a   Santos Simarro, Fernando ^d   Lapunzina, Pablo ^d   Wierzba, Jolanta ^e   Casale, César H ^f   Ramos, Feliciano J ^a,g   Gillessen Kaesbach, Gabriele ^b   Kaiser, Frank J ^b   Pié, Juan ^a  

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b UNIVERSITY OF LÜBECK   (Germany)

^c HOSPITAL PABLO TOBÓN URIBE   (Colombia)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e MEDICAL UNIVERSITY OF GDANSK   (Poland)

^f DEPARTAMENTO DE QUÍMICA   (Argentina)

^g HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

Author keywords

CdLS; NIPBL; Physiological splicing; Splicing mutations

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; DE LANGE SYNDROME; DNA EXTRACTION; DNA SYNTHESIS; FEMALE; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; MALE; NIPBL GENE; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RNA EXTRACTION; RNA SPLICING; SCHOOL CHILD; SEQUENCE ANALYSIS; YOUNG ADULT; FRAMESHIFT MUTATION; GENETICS; INFANT; METABOLISM; PATHOLOGY;

ISOPROTEIN; NIPBL PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DE LANGE SYNDROME; FEMALE; FRAMESHIFT MUTATION; HUMANS; INFANT; MALE; PHENOTYPE; PROTEIN ISOFORMS; PROTEINS; RNA SPLICING; YOUNG ADULT;

EID: 84902274261     PISSN: 16616596     EISSN: 14220067     Source Type: Journal    
DOI: 10.3390/ijms150610350     Document Type: Article

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