Germline mosaicism of a novel UBE3A mutation in Angelman syndrome [3]

American Journal of Medical Genetics

Volumn 138 A, Issue 2, 2005, Pages 187-189

  Hosoki, Kana ^a   Takano, Kyoko ^a   Sudo, Akira ^a   Tanaka, Soichiro ^b   Saitoh, Shinji ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b National Rehabilitation Center for the Disabled   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DEVELOPMENTAL DISORDER; DNA FLANKING REGION; GENE; GENE MUTATION; GERM LINE; HAPPY PUPPET SYNDROME; LETTER; MOSAICISM; PRIORITY JOURNAL; UBE3A GENE;

ADOLESCENT; ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; ANGELMAN SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; GERM-LINE MUTATION; HUMANS; MALE; MOSAICISM; PEDIGREE; SEQUENCE DELETION; SIBLINGS; UBIQUITIN-PROTEIN LIGASES;

EID: 25644448948     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30926     Document Type: Letter

References (11)

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