Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
about
Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.A sperm-specific proteome-scale metabolic network model identifies non-glycolytic genes for energy deficiency in asthenozoospermia.Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.
P2860
Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.
description
2013 nî lūn-bûn
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2013年学术文章
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name
Three novel mutations in the c ...... cy and in healthy individuals.
@en
Three novel mutations in the carnitine-acylcarnitine translocase
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type
label
Three novel mutations in the c ...... cy and in healthy individuals.
@en
Three novel mutations in the carnitine-acylcarnitine translocase
@nl
prefLabel
Three novel mutations in the c ...... cy and in healthy individuals.
@en
Three novel mutations in the carnitine-acylcarnitine translocase
@nl
P2093
P2860
P356
P1476
Three novel mutations in the c ...... cy and in healthy individuals.
@en
P2093
Hidetoshi Kaneoka
Kuniko Tokoro
Takao Fukushima
Takao Saito
Tetsuhiko Yasuno
Tomoko Tokuyasu
Toshiyuki Fukao
Yukari Sasaguri
P2860
P2888
P304
P356
10.1038/JHG.2013.103
P577
2013-10-03T00:00:00Z