A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
about
A homozygous PIGN missense mutation in Soft-Coated Wheaten Terriers with a canine paroxysmal dyskinesia.Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.
P2860
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
description
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name
A PIGN mutation responsible fo ...... S1) in an Israeli-Arab family.
@en
A PIGN mutation responsible fo ...... -hypotonia-seizures syndrome 1
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type
label
A PIGN mutation responsible fo ...... S1) in an Israeli-Arab family.
@en
A PIGN mutation responsible fo ...... -hypotonia-seizures syndrome 1
@nl
prefLabel
A PIGN mutation responsible fo ...... S1) in an Israeli-Arab family.
@en
A PIGN mutation responsible fo ...... -hypotonia-seizures syndrome 1
@nl
P2093
P2860
P356
P1476
A PIGN mutation responsible fo ...... S1) in an Israeli-Arab family.
@en
P2093
Aravinda Chakravarti
Ilana Chervinsky
Joseph Mark Tilghman
Lucia Zalman
Morad Khayat
Stavit A Shalev
P2860
P304
P356
10.1002/AJMG.A.37375
P407
P577
2015-09-14T00:00:00Z