文献
J-GLOBAL ID:201802287650878185
整理番号:18A0402349
出生前に発現した骨格イソ型TTN遺伝子のホモ接合性切断変異心臓病変を伴わない多発性関節拘縮症とミオパチー【Powered by NICT】
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
著者 (15件):
Fernandez-Marmiesse Ana
(Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruna, Spain)
,
Fernandez-Marmiesse Ana
(Centro de Investigacion Biomedica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain)
,
Carrascosa-Romero M. Carmen
(Neuropediatric Unit, Complejo Universitario Hospitalario de Albacete, Albacete, Spain)
,
Alfaro Ponce Blanca
(Neonatology Service, Complejo Universitario Hospitalario de Albacete, Albacete, Spain)
,
Nascimento Andres
(Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Deu Barcelona, Barcelona, Spain)
,
Ortez Carlos
(Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Deu Barcelona, Barcelona, Spain)
,
Romero Norma
(Institut de Myologie, UPMC Universite, Groupe Hospitalier Universitaire La Pitie-Salpetriere, Paris, France)
,
Palacios Lourdes
(Progenika Biopharma, A Grifols Company, Derio, Spain)
,
Jimenez-Mallebrera Cecilia
(Centro de Investigacion Biomedica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain)
,
Jimenez-Mallebrera Cecilia
(Neuromuscular Unit, Neuropaediatrics Department, Hospital Sant Joan de Deu Barcelona, Barcelona, Spain)
,
Jou Cristina
(Centro de Investigacion Biomedica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain)
,
Jou Cristina
(Pathology Department, Hospital Sant Joan de Deu, Barcelona, Spain)
,
Gouveia Sofia
(Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruna, Spain)
,
Couce Maria L.
(Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruna, Spain)
,
Couce Maria L.
(Centro de Investigacion Biomedica de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain)
資料名:
Neuromuscular Disorders
(Neuromuscular Disorders)
巻:
27
号:
2
ページ:
188-192
発行年:
2017年
JST資料番号:
W1760A
ISSN:
0960-8966
資料種別:
逐次刊行物 (A)
記事区分:
原著論文
発行国:
オランダ (NLD)
言語:
英語 (EN)