Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping
- Author
- EL-HATTAB, Ayman W1 ; SMOLAREK, Teresa A2 ; PATEL, Ankita1 ; SCAGLIA, Fernando1 ; LUPSKI, James R1 ; SAU WAI CHEUNG1 ; STANKIEWICZ, Pawel6 ; WALKER, Martha E2 ; SCHORRY, Elizabeth K2 ; IMMKEN, Ladonna L3 ; PATEL, Gayle3 ; ABBOTT, Mary-Alice4 ; LANPHER, Brendan C5 ; ZHISHUO OU1 ; KANG, Sung-Hae L1
[1] Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm R809, Houston, TX 77030, United States
[2] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, United States
[3] Clinical Genetics, Specially for Children, Austin, TX 78723, United States
[4] Clinical Genetics, Baystate Medical Center, Springfield, MA 01199, United States
[5] Division of Genetics and Genomic Medicine, Vanderbilt University, Nashville, TN 37232, United States
[6] Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland - Source
Human genetics. 2009, Vol 126, Num 4, pp 589-602, 14 p ; ref : 1 p.1/2
- CODEN
- HUGEDQ
- ISSN
- 0340-6717
- Scientific domain
- Biotechnology; Genetics
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Keyword (fr)
- Duplication Délétion Génomique Génétique Homme Point cassure Aberration chromosomique
- Keyword (en)
- Duplication Deletion Genomics Genetics Human Breakpoint Chromosomal aberration
- Keyword (es)
- Duplicación Deleción Genómica Genética Hombre Punto ruptura Aberración cromosómica
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04B Diverse techniques
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution / 002A07C Classical genetics, quantitative genetics, hybrids / 002A07C03 Human
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22059264
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00439-009-0706-x 
https://dx.doi.org/10.1007/s00439-009-0706-x
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