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1 Ergebnisse
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A novel homozygous p.Arg527Leu LMNA mutation in two unrelat..:
Al-Haggar, Mohammad
;
Madej-Pilarczyk, Agnieszka
;
Kozlowski, Lukasz
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476705. , 2012
Link:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476705
RT Journal T1
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftpubmed:oai:pubmedcentral.nih.gov:3476705&Exemplar=1&LAN=DE A1 Al-Haggar, Mohammad A1 Madej-Pilarczyk, Agnieszka A1 Kozlowski, Lukasz A1 Bujnicki, Janusz M A1 Yahia, Sohier A1 Abdel-Hadi, Dina A1 Shams, Amany A1 Ahmad, Nermin A1 Hamed, Sahar A1 Puzianowska-Kuznicka, Monika PB Nature Publishing Group YR 2012 K1 Article JF http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476705 LK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476705 DO http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3476705 SF ELIB - SuUB Bremen
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