A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
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Benign Hereditary Chorea: An UpdateGenetic disorders of thyroid metabolism and brain developmentRecurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.NKX2.1-Related Disorders: a novel mutation with mild clinical presentationBenign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation.Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
P2860
Q26801431-A35EAE71-C63C-453F-9FE5-27EF00442B78Q26858956-64868250-BEE4-4856-A5E0-66C34C94F0E9Q33164961-64DC8BFB-90FC-4BE6-BCAF-02DF0EB64ABAQ34136479-D4CEE897-A5D9-473B-9408-68A57880F16EQ42041125-695F5084-72AE-4041-91B7-E1EABB943B36Q42510024-D001C1EE-CCFD-4C96-8738-AE3BD3FC339FQ48905953-E225B805-D92A-4508-9239-5CBE82B0A070
P2860
A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea.
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article científic
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A novel nonsense mutation in t ...... with benign hereditary chorea.
@en
A novel nonsense mutation in t ...... with benign hereditary chorea.
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type
label
A novel nonsense mutation in t ...... with benign hereditary chorea.
@en
A novel nonsense mutation in t ...... with benign hereditary chorea.
@nl
prefLabel
A novel nonsense mutation in t ...... with benign hereditary chorea.
@en
A novel nonsense mutation in t ...... with benign hereditary chorea.
@nl
P2093
P1476
A novel nonsense mutation in t ...... with benign hereditary chorea.
@en
P2093
Kiyoshiro Nagamatsu
Kunihiro Yoshida
Shu-ichi Ikeda
Yoshiki Sekijima
P304
P356
10.1016/J.JNS.2011.09.013
P577
2011-10-05T00:00:00Z