Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

about

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Item

http://www.wikidata.org/entity/Q41920162

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Comprehensive molecular screen ...... d gyration and polymicrogyria.

@en

type

Item

label

Comprehensive molecular screen ...... d gyration and polymicrogyria.

@en

prefLabel

Comprehensive molecular screen ...... d gyration and polymicrogyria.

@en

P1476

Comprehensive molecular screen ...... d gyration and polymicrogyria.

@en

P2093

G I Rice

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

G Soares

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

I Desguerre

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

J H Livingston

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

M C O'Driscoll

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

M Gonçalves da Rocha

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

R Nabbout

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

S D'Arrigo

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

P2860

Occludin: a novel integral membrane protein localizing at tight junctions

Primer3--new capabilities and interfaces

Splicing diversity of the human OCLN gene and its biological significance for hepatitis C virus entry.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

Population-genetic properties of differentiated human copy-number polymorphisms

Segmental duplications in euchromatic regions of human chromosome 5: a source of evolutionary instability and transcriptional innovation.

Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature.

A novel rearrangement of occludin causes brain calcification and renal dysfunction.

Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

P304

228-234

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

P31

scholarly article

P356

10.1111/CGE.13025

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

P433

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

P478

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

P50

Nathalie Boddaert

Yanick J. Crow

E M Jenkinson

P577

2017-04-07T00:00:00Z

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

P698

28386946

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

P921

polymicrogyria