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A Novel Germline Mutation of ADA2 Gene in Two "Discordant" ..:
Silvia Vai
;
Erika Marin
;
Roberta Cosso
...
https://www.mdpi.com/1422-0067/22/15/8331. , 2021
Link:
https://doi.org/10.3390/ijms22158331
RT Journal T1
A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:561562cbd27d4533911a770e01a84514&Exemplar=1&LAN=DE A1 Silvia Vai A1 Erika Marin A1 Roberta Cosso A1 Francesco Saettini A1 Sonia Bonanomi A1 Alessandro Cattoni A1 Iacopo Chiodini A1 Luca Persani A1 Alberto Falchetti PB MDPI AG YR 2021 K1 rare diseases K1 DADA2 syndrome K1 ADA2/CECR1 gene K1 bone metabolism K1 DXA analysis K1 bone health K1 Biology (General) K1 QH301-705.5 K1 Chemistry K1 QD1-999 JF https://www.mdpi.com/1422-0067/22/15/8331 LK http://dx.doi.org/https://doi.org/10.3390/ijms22158331 DO https://doi.org/10.3390/ijms22158331 SF ELIB - SuUB Bremen
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