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1 Ergebnisse
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Putative founder effect of Arg338* AP4M1 (SPG50) variant ca..:
Becker, Aurélie
;
Felici, Charlotte
;
Lambert, Laëtitia
...
Clinical Genetics. 103 (2022) 3 - p. 346-351 , 2022
Link:
https://doi.org/10.1111/cge.14264
RT Journal T1
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
UL https://suche.suub.uni-bremen.de/peid=cr-10.1111_cge.14264&Exemplar=1&LAN=DE A1 Becker, Aurélie A1 Felici, Charlotte A1 Lambert, Laëtitia A1 de Saint Martin, Anne A1 Abi‐Warde, Marie‐Thérèse A1 Schaefer, Elise A1 Zix, Christian A1 Zamani, Mina A1 Sadeghian, Saeid A1 Zeighami, Jawaher A1 Seifi, Tahereh A1 Azizimalamiri, Reza A1 Shariati, Gholamreza A1 Galehdari, Hamid A1 Selig, Mareike A1 Ding, Can A1 Duerinckx, Sarah A1 Pirson, Isabelle A1 Abramowicz, Marc A1 Clément, Guillemette A1 Leheup, Bruno A1 Jonveaux, Philippe A1 Lefort, Geneviève A1 Bronner, Myriam A1 Renaud, Mathilde A1 Bonnet, Céline PB Wiley YR 2022 SN 0009-9163 SN 1399-0004 JF Clinical Genetics VO 103 IS 3 SP 346 OP 351 LK http://dx.doi.org/https://doi.org/10.1111/cge.14264 DO https://doi.org/10.1111/cge.14264 SF ELIB - SuUB Bremen
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