Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
about
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationX linked hydrocephalus and MASA syndrome.Discordant segregation of Xq28 markers and a mutation in the L1 gene in a family with X linked hydrocephalus.Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disordersHydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM.CRASH syndrome: mutations in L1CAM correlate with severity of the disease.The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule.Genotype-phenotype correlation in L1 associated diseases.The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.MASA syndrome: ultrasonographic evidence in a male fetus.Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.
P2860
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P2860
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
description
1995 nî lūn-bûn
@nan
1995 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Mutations in L1-CAM in two fam ...... legia, MASA syndrome, and HSAS
@nl
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@ast
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en-gb
type
label
Mutations in L1-CAM in two fam ...... legia, MASA syndrome, and HSAS
@nl
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@ast
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en-gb
prefLabel
Mutations in L1-CAM in two fam ...... legia, MASA syndrome, and HSAS
@nl
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@ast
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en-gb
P2093
P2860
P356
P1476
Mutations in L1-CAM in two fam ...... egia, MASA syndrome, and HSAS.
@en
P2093
Cassiman JJ
P2860
P304
P356
10.1136/JMG.32.7.549
P407
P577
1995-07-01T00:00:00Z