Article
Strong evidence for autosomal dominant inheritance of severe congenital neutropenia associated with ELA2 mutations.
The Journal of pediatrics - 1 May 2006
Boxer Laurence A, Stein Steven, Buckley Danielle, Bolyard Audrey Anna, Dale David C
Abstract excerpt
OBJECTIVE: To investigate cases of severe congenital neutropenia (SCN) to ascertain SCN inheritance after determining that the same sperm donor was used by 4 different families to impregnate mothers. STUDY DESIGN: Because the donor sperm was not available, alternative methods were used to determine whether the sperm donor transmitted SCN. DNA isolated from leukocytes was used to sequence the ELA2 gene in the...
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