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The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
10.1016/j.ajhg.2019.09.023
000495878800006
31668704
Giannuzzi
G.
author
Schmidt
P.J.
author
Porcu
E.
author
Willemin
G.
author
Munson
K.M.
author
Nuttle
X.
author
Earl
R.
author
Chrast
J.
author
Hoekzema
K.
author
Risso
D.
author
Männik
K.
author
De Nittis
P.
author
Baratz
E.D.
author
16p11.2 Consortium
contributor
Herault
Y.
author
Gao
X.
author
Philpott
C.C.
author
Bernier
R.A.
author
Kutalik
Z.
author
Fleming
M.D.
author
Eichler
E.E.
author
Reymond
A.
author
article
2019-11-07
American journal of human genetics
1537-6605
0002-9297
journal
105
5
947-958
Anemia/genetics
Animals
Autistic Disorder/genetics
Chromosome Deletion
Chromosome Disorders/genetics
Chromosome Duplication/genetics
Chromosomes, Human, Pair 16/genetics
DNA Copy Number Variations/genetics
Female
Genotype
Heterozygote
Homeostasis/genetics
Humans
Iron
Male
Phenotype
Proteins/genetics
16p11.2 copy number variants
BOLA2
gene duplication
human evolution
human-specific segmental duplications
iron deficiency anemia
eng
60_published
true
peer-reviewed
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish