A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects (2021)
- Authors:
- USP affiliated authors: PITTOLI, SIULAN VENDRAMINI PAULOVICH - HRAC ; NAKATA, NANCY MIZUE KOKITSU - HRAC ; CEIDE, ROSELI MARIA ZECHI - HRAC
- Unidade: HRAC
- DOI: 10.1016/j.bone.2021.116152
- Subjects: DISOSTOSE MANDIBULOFACIAL; MUTAÇÃO GENÉTICA; FENÓTIPOS; CONVULSÕES
- Agências de fomento:
- Language: Inglês
- Imprenta:
- Source:
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
PALAGANO, Eleonora et al. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, v. 153, p. 7 , 2021Tradução . . Disponível em: https://doi.org/10.1016/j.bone.2021.116152. Acesso em: 12 maio 2025. -
APA
Palagano, E., Gordon, C. T., Uva, P., Strina, D., Dimartino, C., Villa, A., et al. (2021). A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. Bone, 153, 7 . doi:10.1016/j.bone.2021.116152 -
NLM
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2025 maio 12 ] Available from: https://doi.org/10.1016/j.bone.2021.116152 -
Vancouver
Palagano E, Gordon CT, Uva P, Strina D, Dimartino C, Villa A, Amiel J, Guion-Almeida ML, Pittoli SVP, Nakata NMK, Zechi-Ceide RM, Sobacchi C. A novel intronic variant in PIGB in acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects [Internet]. Bone. 2021 ; 153 7 .[citado 2025 maio 12 ] Available from: https://doi.org/10.1016/j.bone.2021.116152 - Novel mutations in GNAI3 in patients with Auriculocondylar Syndrome suggest a dominant negative effect with disruption of GTP/GDP binding
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Informações sobre o DOI: 10.1016/j.bone.2021.116152 (Fonte: oaDOI API)
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