Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

about

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.

P2860

Q37296773-110AB7F4-4863-4B74-9484-3A0AAB3CA1C1 Q44540307-B6E7B815-D6E0-488E-8579-BD796787E7B3

P2860

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

Item

http://www.wikidata.org/entity/Q55059336

description

2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年学术文章

@wuu

2015年学术文章

@zh-cn

2015年学术文章

@zh-hans

2015年学术文章

@zh-my

2015年学术文章

@zh-sg

2015年學術文章

@yue

2015年學術文章

@zh

2015年學術文章

@zh-hant

name

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@en

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@nl

type

Item

label

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@en

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@nl

prefLabel

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@en

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@nl

P1476

Novel EDA mutation in X-linked ...... enotype-phenotype correlation.

@en

P2093

B Zeng

http://www.w3.org/2001/XMLSchema#string

D Yu

http://www.w3.org/2001/XMLSchema#string

H Lu

http://www.w3.org/2001/XMLSchema#string

J Lu

http://www.w3.org/2001/XMLSchema#string

L Zhou

http://www.w3.org/2001/XMLSchema#string

L Zhu

http://www.w3.org/2001/XMLSchema#string

W Zhao

http://www.w3.org/2001/XMLSchema#string

X Xiao

http://www.w3.org/2001/XMLSchema#string

P2860

Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia

Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

TRAF6-deficient mice display hypohidrotic ectodermal dysplasia.

Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia

The crystal structures of EDA-A1 and EDA-A2: splice variants with distinct receptor specificity

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats

P304

994-1000

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/ODI.12376

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2015-10-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

26411740

http://www.w3.org/2001/XMLSchema#string

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

about

P2860

P2860

Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698