Artigo de periodico

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment (2017)

• Authors:
  • Wiessner, Manuela
  • Roos, Andreas
  • Munn, Christopher J.
  • Viswanathan, Ranjith
  • Whyte, Tamieka
  • Cox, Dan
  • Schoser, Benedikt
  • Sewry, Caroline
  • Roper, Helen
  • Phadke, Rahul
  • Bettolo, Chiara Marini
  • Barresi, Rita
  • Charlton, Richard
  • Bönnemann, Carsten G.
  • Abath Neto, Osório
  • Reed, Umbertina C.
  • Zanoteli, Edmar
  • Moreno, Cristiane Araújo Martins
  • Ertl-Wagner, Birgit
  • Stucka, Rolf
  • De Goede, Christian
  • Silva, Tamiris Borges da
  • Hathazi, Denisa
  • Dell’Aica, Margherita
  • Zahedi, René P.
  • Thiele, Simone
  • Müller, Juliane
  • Kingston, Helen
  • Müller, Susanna
  • Curtis, Elizabeth
  • Walter, Maggie C.
  • Strom, Tim M.
  • Straub, Volker
  • Bushby, Kate
  • Muntoni, Francesco
  • Swan, Laura E.
  • Lochmüller, Hanns
  • Senderek, Jan
• USP affiliated authors: REED, UMBERTINA CONTI - FM ; ZANOTELI, EDMAR - FM
• Unidade: FM
• DOI: 10.1016/j.ajhg.2017.01.024
• Subjects: DISTROFIA MUSCULAR; COMPROMETIMENTO COGNITIVO LEVE; MUTAÇÃO; ENZIMAS
• Language: Inglês
• Imprenta:
  • Publisher place: Chicago
  • Date published: 2017
• Source:
  • Título: American Journal of Human Genetics
  • ISSN: 0002-9297
  • Volume/Número/Paginação/Ano: v. 100, n. 3, p. 523-536, 2017

Informações sobre o DOI: 10.1016/j.ajhg.2017.01.024 (Fonte: oaDOI API)
• Este periódico é de acesso aberto
• Este artigo NÃO é de acesso aberto
  

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How to cite

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• ABNT

  WIESSNER, Manuela et al. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, v. 100, n. 3, p. 523-536, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2017.01.024. Acesso em: 15 fev. 2026.

• APA

  Wiessner, M., Roos, A., Munn, C. J., Viswanathan, R., Whyte, T., Cox, D., et al. (2017). Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment. American Journal of Human Genetics, 100( 3), 523-536. doi:10.1016/j.ajhg.2017.01.024

• NLM

  Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2026 fev. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024

• Vancouver

  Wiessner M, Roos A, Munn CJ, Viswanathan R, Whyte T, Cox D, Schoser B, Sewry C, Roper H, Phadke R, Bettolo CM, Barresi R, Charlton R, Bönnemann CG, Abath Neto O, Reed UC, Zanoteli E, Moreno CAM, Ertl-Wagner B, Stucka R, De Goede C, Silva TB da, Hathazi D, Dell’Aica M, Zahedi RP, Thiele S, Müller J, Kingston H, Müller S, Curtis E, Walter MC, Strom TM, Straub V, Bushby K, Muntoni F, Swan LE, Lochmüller H, Senderek J. Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment [Internet]. American Journal of Human Genetics. 2017 ; 100( 3): 523-536.[citado 2026 fev. 15 ] Available from: https://doi.org/10.1016/j.ajhg.2017.01.024

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