TY  - GEN
AU  - Roos,Dirk
AU  - Kuhns,Douglas B
AU  - Maddalena,Anne
AU  - Bustamante,Jacinta
AU  - Kannengiesser,Caroline
AU  - de Boer,Martin
AU  - van Leeuwen,Karin
AU  - Köker,M Yavuz
AU  - Wolach,Baruch
AU  - Roesler,Joachim
AU  - Malech,Harry L
AU  - Holland,Steven M
AU  - Gallin,John I
AU  - Stasia,Marie-José
TI  - Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)
SN  - 1096-0961
PY  - 2010///0730
KW  - Amino Acid Substitution
KW  - Codon, Nonsense
KW  - Genes, Recessive
KW  - Granulomatous Disease, Chronic
KW  - enzymology
KW  - Humans
KW  - Mutation
KW  - Mutation, Missense
KW  - NADPH Oxidases
KW  - genetics
KW  - Point Mutation
KW  - Polymorphism, Genetic
KW  - Pseudogenes
KW  - RNA Splice Sites
KW  - Sequence Deletion
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1016/j.bcmd.2010.01.009
ER  -