Further expansion of the phenotypic spectrum associated...

American Journal of Medical Genetics Part A 2011 Vol. 155; Iss. 8

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

David L. Skidmore, David Chitayat, Tim Morgan, Alek Hinek, Bjoern Fischer, Aikaterini Dimopoulou, Gino Somers, William Halliday, Susan Blaser, Yenge Diambomba, Edmond G. Lemire, Uwe Kornak, Stephen P.
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Volume:
155
Year:
2011
Language:
english
Pages:
9
DOI:
10.1002/ajmg.a.34057
File:
PDF, 4.35 MB
english, 2011
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