Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 924-929

  Pié, Juan ^a   Gil Rodríguez, María Concepción ^a   Ciero, Milagros ^a   López Viñas, Eduardo ^b,c   Ribate, María Pilar ^a   Arnedo, María ^a   Deardorff, Matthew A ^d   Puisac, Beatriz ^a   Legarreta, Jesús ^a   De Karam, Juan Carlos ^a   Rubio, Encarnación ^a   Bueno, Inés ^a   Baldellou, Antonio ^e   Calvo, Ma Teresa ^e   Casals, Nuria ^c,f   Olivares, José Luis ^a   Losada, Ana ^g   Hegardt, Fausto G ^c,h   Krantz, Ian D ^d   Gómez Puertas, Paulino ^b,c   Ramos, Feliciano J ^a   more..

^a UNIVERSITY OF ZARAGOZA   (Spain)

^b CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^f UNIVERSITAT INTERNACIONAL DE CATALUNYA   (Spain)

^g Centro Nacional de Investigaciones Oncológicas   (Spain)

^h UNIVERSITY OF BARCELONA   (Spain)

Author keywords

Cornelia de Lange syndrome (CdLS); Genes; Mutations; NIPBL; SMC1A; SMC3

Indexed keywords

COHESIN; GENOMIC DNA; MESSENGER RNA;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DE LANGE SYNDROME; FEMALE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MUTATION RATE; NIPBL GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SMC 1 A GENE; SMC 3 GENE; SPLICING DEFECT;

ALLELES; CELL CYCLE PROTEINS; CHROMOSOMAL PROTEINS, NON-HISTONE; COHORT STUDIES; DE LANGE SYNDROME; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE; PROTEINS; PROTEOCHONDROITIN SULFATES;

EID: 77950443282     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33348     Document Type: Article

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