A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

Human Molecular Genetics

Volumn 19, Issue 10, 2010, Pages 1967-1973

  Béna, Frédérique ^a   Gimelli, Stefania ^a   Migliavacca, Eugenia ^b   Brun Druc, Nathalie ^a   Buiting, Karin ^c   Antonarakis, Stylianos E ^a,b   Sharp, Andrew J ^b  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; DELTA LIKE 1 PROTEIN; MATERNALLY EXPRESSED GENE 3 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q; CHROMOSOME DELETION; FEMALE; GENE CLUSTER; GENE REARRANGEMENT; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; INFANT; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; SEQUENCE HOMOLOGY; TRINUCLEOTIDE REPEAT; UNIPARENTAL DISOMY;

ADOLESCENT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; FEMALE; GENOME, HUMAN; HUMANS; INFANT; INFANT, NEWBORN; PHYSICAL CHROMOSOME MAPPING; PREGNANCY; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 77952498709     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddq075     Document Type: Article

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