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VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypop...

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Autori principali: Szumska, Dorota, Pieles, Guido, Essalmani, Rachid, Bilski, Michal, Mesnard, Daniel, Kaur, Kulvinder, Franklyn, Angela, El Omari, Kamel, Jefferis, Joanna, Bentham, Jamie, Taylor, Jennifer M., Schneider, Jurgen E., Arnold, Sebastian J., Johnson, Paul, Tymowska-Lalanne, Zuzanna, Stammers, Dave, Clarke, Kieran, Neubauer, Stefan, Morris, Andrew, Brown, Steve D., Shaw-Smith, Charles, Cama, Armando, Capra, Valeria, Ragoussis, Jiannis, Constam, Daniel, Seidah, Nabil G., Prat, Annik, Bhattacharya, Shoumo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2008
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2418583/
https://ncbi.nlm.nih.gov/pubmed/18519639
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gad.479408
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