Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. - Wikidata - awgldk - TriplyDB

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

http://www.wikidata.org/entity/Q33680415

about

A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.Septo-optic dysplasia and digital anomalies: another observation.

P2860

Q38737953-AFC9A16A-309D-4065-B851-DA2B0BAD22B0 Q48512302-37B312AC-E7EF-451A-B0DE-23917BD2DE48

P2860

Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

http://www.wikidata.org/entity/Q33680415

description

1998 nî lūn-bûn

@nan

1998 թուականի Մարտին հրատարակուած գիտական յօդուած

@hyw

1998 թվականի մարտին հրատարակված գիտական հոդված

@hy

1998年の論文

@ja

1998年論文

@yue

1998年論文

@zh-hant

1998年論文

@zh-hk

1998年論文

@zh-mo

1998年論文

@zh-tw

1998年论文

@wuu

name

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@ast

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@en

type

label

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@ast

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@en

prefLabel

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@ast

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@en

P1433

Q33680415-255BFDE8-53D4-4D69-BFE3-A8AEEEAC310F

P1476

Q33680415-4C21D2EA-A22D-4298-9894-7546C20C225F

P2093

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Q33680415-C8023FEB-61B7-4FCA-BD9A-0A1292A3F495

Q33680415-D2C71880-F4A1-4001-8C93-20DE13968843

P2860

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P356

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P577

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P5875

Q33680415-75B839DE-7B21-46B7-B785-EEDA6C3CC31E

P698

Q33680415-D06F6A98-3ECB-4DDD-BDE1-E2E051990ED9

P932

Q33680415-48A62D25-D183-43F0-8A2B-2E72297B23DC

P356

P1433

Journal of Medical Genetics

P1476

Septo-optic dysplasia and WS1 ...... novel mutation in PAX3 exon 7.

@en

P2093

J H Asher

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

J W Innis

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

M L Carey

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

T B Friedman

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

P2860

Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

P304

248-250

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

P31

scholarly article

P356

10.1136/JMG.35.3.248

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

P407

P433

3

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P478

35

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P577

1998-03-01T00:00:00Z

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

P5875

13727835

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P698

9541113

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

P932

1051252

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