TY  - GEN
AU  - Campagna,Dean R
AU  - de Bie,Charlotte I
AU  - Schmitz-Abe,Klaus
AU  - Sweeney,Marion
AU  - Sendamarai,Anoop K
AU  - Schmidt,Paul J
AU  - Heeney,Matthew M
AU  - Yntema,Helger G
AU  - Kannengiesser,Caroline
AU  - Grandchamp,Bernard
AU  - Niemeyer,Charlotte M
AU  - Knoers,Nine V A M
AU  - Swart,Sonia
AU  - Marron,Gordon
AU  - van Wijk,Richard
AU  - Raymakers,Reinier A
AU  - May,Alison
AU  - Markianos,Kyriacos
AU  - Bottomley,Sylvia S
AU  - Swinkels,Dorine W
AU  - Fleming,Mark D
TI  - X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations
SN  - 1096-8652
PY  - 2014///0604
KW  - 5-Aminolevulinate Synthetase
KW  - genetics
KW  - Adult
KW  - Aged
KW  - Anemia, Sideroblastic
KW  - blood
KW  - Binding Sites
KW  - Enhancer Elements, Genetic
KW  - Europe
KW  - ethnology
KW  - Female
KW  - GATA Transcription Factors
KW  - metabolism
KW  - Genetic Diseases, X-Linked
KW  - Genotype
KW  - Humans
KW  - Introns
KW  - Male
KW  - Middle Aged
KW  - Mutation
KW  - Pedigree
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S
UR  - https://doi.org/10.1002/ajh.23616
ER  -