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Volumn 18, Issue 10, 2010, Pages 1133-1140

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

(27)  Parri, Veronica a   Katzaki, Eleni a   Uliana, Vera a   Scionti, Francesca a   Tita, Rossella a   Artuso, Rosangela a   Longo, Ilaria a   Boschloo, Renske b   Vijzelaar, Raymon b   Selicorni, Angelo c   Brancati, Francesco d   Dallapiccola, Bruno e   Zelante, Leopoldo d   Hamel, Christian P f   Sarda, Pierre f   Lalani, Seema R g   Grasso, Rita h   Buoni, Sabrina a   Hayek, Joussef a   Servais, Laurent i   more..

h IRCSS   (Italy)

Author keywords

COH1; Cohen syndrome; MLPA

Indexed keywords

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; COHEN SYNDROME; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE NUMBER; GENETIC SCREENING; HAPLOTYPE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MYOPIA; NEUTROPENIA; OBESITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOPATHY;

EID: 77957154320     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.59     Document Type: Article
Times cited : (31)

References (16)
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.