Concepedia

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

Christoph Klein, Magda Grudzien, Giridharan Appaswamy, Manuela Germeshausen, Inga Sandrock, Alejandro A. Schäffer, Chozhavendan Rathinam, Kaan Boztuǧ, Beate Schwinzer, Nima Rezaei,

Nature Genetics · 2006 · 504 citations · 25 references

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25

The Pathophysiology of Mitochondrial Cell Death

Douglas R. Green, Guido Kroemer · Science · 2004 · 3.4K citations

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Faster sequential genetic linkage computations.

Robert W. Cottingham, Ramana M. Idury, Alejandro A. Schäffer · PubMed · 1993 · 1.4K citations

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Avoiding Recomputation in Linkage Analysis

Alejandro A. Sch auml ffer, Sandeep Gupta, Kartheek Medhavi Penagamuri Shriram et al. · Human Heredity · 1994 · 673 citations

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Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia

David C. Dale, Richard Person, Audrey Anna Bolyard et al. · Blood · 2000 · 559 citations

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Mutations in the Gene for the Granulocyte Colony-Stimulating–Factor Receptor in Patients with Acute Myeloid Leukemia Preceded by Severe Congenital Neutropenia

Fan Dong, Russell K. Brynes, Nicola Tidow et al. · New England Journal of Medicine · 1995 · 471 citations · Full text

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