TY  - GEN
AU  - Schoenmakers,Erik
AU  - Agostini,Maura
AU  - Mitchell,Catherine
AU  - Schoenmakers,Nadia
AU  - Papp,Laura
AU  - Rajanayagam,Odelia
AU  - Padidela,Raja
AU  - Ceron-Gutierrez,Lourdes
AU  - Doffinger,Rainer
AU  - Prevosto,Claudia
AU  - Luan,Jian'an
AU  - Montano,Sergio
AU  - Lu,Jun
AU  - Castanet,Mireille
AU  - Clemons,Nick
AU  - Groeneveld,Matthijs
AU  - Castets,Perrine
AU  - Karbaschi,Mahsa
AU  - Aitken,Sri
AU  - Dixon,Adrian
AU  - Williams,Jane
AU  - Campi,Irene
AU  - Blount,Margaret
AU  - Burton,Hannah
AU  - Muntoni,Francesco
AU  - O'Donovan,Dominic
AU  - Dean,Andrew
AU  - Warren,Anne
AU  - Brierley,Charlotte
AU  - Baguley,David
AU  - Guicheney,Pascale
AU  - Fitzgerald,Rebecca
AU  - Coles,Alasdair
AU  - Gaston,Hill
AU  - Todd,Pamela
AU  - Holmgren,Arne
AU  - Khanna,Kum Kum
AU  - Cooke,Marcus
AU  - Semple,Robert
AU  - Halsall,David
AU  - Wareham,Nicholas
AU  - Schwabe,John
AU  - Grasso,Lucia
AU  - Beck-Peccoz,Paolo
AU  - Ogunko,Arthur
AU  - Dattani,Mehul
AU  - Gurnell,Mark
AU  - Chatterjee,Krishna
TI  - Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans
SN  - 1558-8238
PY  - 2011///0114
KW  - Adult
KW  - Aged
KW  - Amino Acid Sequence
KW  - Animals
KW  - Azoospermia
KW  - genetics
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - DNA
KW  - Female
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - Insulin Resistance
KW  - Male
KW  - Mice
KW  - Middle Aged
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Mutation, Missense
KW  - Pedigree
KW  - Photosensitivity Disorders
KW  - RNA-Binding Proteins
KW  - chemistry
KW  - Reactive Oxygen Species
KW  - metabolism
KW  - Selenocysteine
KW  - Selenoproteins
KW  - deficiency
KW  - Sequence Homology, Amino Acid
KW  - Spermatogenesis
KW  - T-Lymphocytes
KW  - immunology
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1172/JCI43653
ER  -