Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
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Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequenceMutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesMutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.Cleft palate is caused by CNS dysfunction in Gad1 and Viaat knockout mice.Congenital myasthenic syndromes in 2012.Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndromeCurrent status of the congenital myasthenic syndromes.Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum.Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three-Dimensional Ultrasonography.Enzymatic Activity of the Scaffold Protein Rapsyn for Synapse Formation.MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).Neuromotor synapses in Escobar syndrome.The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
P2860
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P2860
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
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2008年學術文章
@zh-hant
name
Mutation analysis of CHRNA1, C ...... drome/fetal akinesia patients.
@ast
Mutation analysis of CHRNA1, C ...... drome/fetal akinesia patients.
@en
type
label
Mutation analysis of CHRNA1, C ...... drome/fetal akinesia patients.
@ast
Mutation analysis of CHRNA1, C ...... drome/fetal akinesia patients.
@en
prefLabel
Mutation analysis of CHRNA1, C ...... drome/fetal akinesia patients.
@ast
Mutation analysis of CHRNA1, C ...... drome/fetal akinesia patients.
@en
P2093
P2860
P1476
Mutation analysis of CHRNA1, C ...... ndrome/fetal akinesia patients
@en
P2093
Benjamin J Harrison
David Beeson
Hayley Spearman
Judy Cossins
Julie Vogt
Lambert Naudin ten Cate
Sascha Vermeer
P2860
P304
P356
10.1016/J.AJHG.2007.09.016
P407
P577
2008-01-01T00:00:00Z