Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

European Journal of Human Genetics

Volumn 15, Issue 2, 2007, Pages 143-149

  Schoumans, Jacqueline ^a   Wincent, Josephine ^a   Barbaro, Michela ^a   Djureinovic, Tatjana ^a   Maguire, Paula ^a   Forsberg, Lena ^a   Staaf, Johan ^b   Thuresson, Ann Charlotte ^c   Borg, Åke ^b   Nordgren, Ann ^a   Malm, Gunilla ^a   Anderlid, Britt Marie ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

DROSOPHILA PROTEIN; FUNGAL PROTEIN; GENE PRODUCT; PROTEIN NIPBL; PROTEIN SMC1L1; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; CHROMOSOME 9P; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DE LANGE SYNDROME; DISEASE SEVERITY; EXON; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE LOCUS; GENE PROBE; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; SWEDEN; X CHROMOSOME LINKAGE;

5' UNTRANSLATED REGIONS; ADOLESCENT; CELL CYCLE PROTEINS; CHILD; CHROMOSOMAL INSTABILITY; CHROMOSOMAL PROTEINS, NON-HISTONE; CHROMOSOMES, HUMAN, PAIR 9; COHORT STUDIES; DE LANGE SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MUTATION; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; PROTEINS; SWEDEN;

EID: 33846300688     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201737     Document Type: Article

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