Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome : implications for genetic counseling

• MARTORELL Loreto

  Seccion de Genetica Molecular, Hospital Sant Joan de Deu

• NASCIMENTO Maria T

  Servicio de Psiquiatria, Hospital Del Mar, Barcelona

• COLOME Roser

  Servicia de Neurologia, Hospital Sant Joan de Deu

• GENOVES Jordi

  Seccion de Genetica Molecular, Hospital Sant Joan de Deu

• NAUDO Montserrat

  Seccion de Genetica Molecular, Hospital Sant Joan de Deu

• NASCIMENTO Andres

  Servicia de Neurologia, Hospital Sant Joan de Deu

収録刊行物

• Journal of human genetics

  Journal of human genetics 56 (1), 87-90, 2011-01-01

キーワード

• compound heterozygote
• fragile X syndrome
• full mutation
• mental retardation
• premutation
• X-inactivation

詳細情報

• CRID: 1572543025620974464
• NII論文ID: 10030657576
• NII書誌ID: AA11206160
• ISSN: 14345161
• 本文言語コード: en
• データソース種別:
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