The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Item
http://www.wikidata.org/entity/Q48073221
Exome Sequencing Identified a Novel FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly.Human Splicing Finder: an online bioinformatics tool to predict splicing signals.A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly.Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome SequencingWhole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactylyPulmonary non-tuberculous mycobacterial infection in congenital contractural arachnodactylyFibrillin-3 expression in human development.Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationEvoTol: a protein-sequence based evolutionary intolerance framework for disease-gene prioritization.The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy.Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year.Mosaic intragenic deletion of FBN2 and severe congenital contractural arachnodactyly.
P2860

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Item
http://www.wikidata.org/entity/Q48073221
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@en
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@nl
type
label
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@en
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@nl
prefLabel
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@en
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P356
P1433
P1476
The FBN2 gene: new mutations, ...... notype-phenotype correlations.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921