Database for the mutations of the Finnish disease heritage. - Test2 - elhamkhani - TriplyDB

Database for the mutations of the Finnish disease heritage.

Database for the mutations of the Finnish disease heritage.

http://www.wikidata.org/entity/Q34520022

about

Indian genetic disease database Human mutation databases.A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.Automation of diagnostic genetic testing: mutation detection by cyclic minisequencing.

P2860

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P2860

Database for the mutations of the Finnish disease heritage.

http://www.wikidata.org/entity/Q34520022

description

2002 nî lūn-bûn

@nan

2002 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2002 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2002年の論文

@ja

2002年論文

@yue

2002年論文

@zh-hant

2002年論文

@zh-hk

2002年論文

@zh-mo

2002年論文

@zh-tw

2002年论文

@wuu

name

Database for the mutations of the Finnish disease heritage.

@ast

Database for the mutations of the Finnish disease heritage.

@en

Database for the mutations of the Finnish disease heritage.

@nl

type

label

Database for the mutations of the Finnish disease heritage.

@ast

Database for the mutations of the Finnish disease heritage.

@en

Database for the mutations of the Finnish disease heritage.

@nl

prefLabel

Database for the mutations of the Finnish disease heritage.

@ast

Database for the mutations of the Finnish disease heritage.

@en

Database for the mutations of the Finnish disease heritage.

@nl

P1433

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Q34520022-743895F2-3805-4301-9A69-A6E51D7CD427

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P2860

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P356

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P433

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P1433

P1476

Database for the mutations of the Finnish disease heritage.

@en

P2093

Kati Sipilä

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

Pertti Aula

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

P2860

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Mutations in KERA, encoding keratocan, cause cornea plana

Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

P304

16-22

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

P31

scholarly article

P356

10.1002/HUMU.10019

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P433

1

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P478

19

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P577

2002-01-01T00:00:00Z

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P698

11754099

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P921