Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high‐affinity IGF‐binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy‐assoc...

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Detaylı Bibliyografya
Yayımlandı:EMBO Mol Med
Asıl Yazarlar: Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2016
Konular:
Research Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4818753/
https://ncbi.nlm.nih.gov/pubmed/26902202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201506106
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