Research

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January 2009 April 2009

January 2009 - April 2009


The exon 55 deletion in the nebulin gene - One single founder mutation with world-wide occurrence.
Neuromuscular Disorders. 2009 Mar;19(3):179-81. Epub 2009 Feb 15.

Lehtokari VL, Greenleaf RS, Dechene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C
The Folkhälsan Institute of Genetics and the Department of Medical Genetics, University of Helsinki, Helsinki, Finland and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.


Primary immunodeficiencies (PIDs) presenting with cytopenia.
Hematology Am Soc Hematol Educ Program. 2009:139-43.

Notarangelo LD
Division of Immunology and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.


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