Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

American Journal of Human Genetics

Volumn 79, Issue 2, 2006, Pages 332-341

  Merla, Giuseppe ^a,b   Howald, Cédric ^a   Henrichsen, Charlotte N ^e   Lyle, Robert ^a   Wyss, Carine ^a   Zabot, Marie Thérèse ^c,d   Antonarakis, Stylianos E ^a   Reymond, Alexandre ^a,e  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c HÔPITAL DEBROUSSE   (France)

^d Interdisciplinary Group to Study the ELN Gene   (France)

^e UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME 7; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE REARRANGEMENT; GENETIC TRANSCRIPTION; GENOMIC INSTABILITY; HEMIZYGOSITY; HUMAN; HUMAN CELL; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; WILLIAMS BEUREN SYNDROME;

EID: 33746514973     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/506371     Document Type: Article

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