Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
about
Tetrahymena Poc1 ensures proper intertriplet microtubule linkages to maintain basal body integrity.Expanding the phenotype of RTTN variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis.Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony.Truncation of POC1A associated with short stature and extreme insulin resistanceSOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.Consequences of Centrosome Dysfunction During Brain Development.SOFT Syndrome: The First Case in Iran
P2860
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P2860
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
description
2015 nî lūn-bûn
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2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
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name
Novel POC1A mutation in primor ...... ghts for centriole biogenesis.
@en
type
label
Novel POC1A mutation in primor ...... ghts for centriole biogenesis.
@en
prefLabel
Novel POC1A mutation in primor ...... ghts for centriole biogenesis.
@en
P2093
P2860
P356
P1476
Novel POC1A mutation in primor ...... ghts for centriole biogenesis.
@en
P2093
Adnan Yuksel
Ali O Bayrak
Alper Gezdirici
Arzu Karabay
Asuman Koparir
Bayram Yuksel
Chad J Creighton
Ece Selcuk
Koray Kirimtay
Mahmut S Sagiroglu
P2860
P304
P356
10.1093/HMG/DDV261
P577
2015-07-10T00:00:00Z