Germline and somatic mosaicism in a female carrier of Hunter disease - Wikidata - wikimedia - TriplyDB

Germline and somatic mosaicism in a female carrier of Hunter disease

Germline and somatic mosaicism in a female carrier of Hunter disease

http://www.wikidata.org/entity/Q33678433

about

Genetic mosaics and the germ line lineage Somatic mosaicism in hemophilia A: a fairly common event.Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

P2860

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P2860

Germline and somatic mosaicism in a female carrier of Hunter disease

http://www.wikidata.org/entity/Q33678433

description

1997 nî lūn-bûn

@nan

1997 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

1997 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

1997年の論文

@ja

1997年論文

@yue

1997年論文

@zh-hant

1997年論文

@zh-hk

1997年論文

@zh-mo

1997年論文

@zh-tw

1997年论文

@wuu

name

Germline and somatic mosaicism in a female carrier of Hunter disease

@ast

Germline and somatic mosaicism in a female carrier of Hunter disease

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type

label

Germline and somatic mosaicism in a female carrier of Hunter disease

@ast

Germline and somatic mosaicism in a female carrier of Hunter disease

@en

prefLabel

Germline and somatic mosaicism in a female carrier of Hunter disease

@ast

Germline and somatic mosaicism in a female carrier of Hunter disease

@en

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P1433

Journal of Medical Genetics

P1476

Germline and somatic mosaicism in a female carrier of Hunter disease

@en

P2093

Bonnet V

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Bozon D

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Froissart R

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Levade T

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Maire I

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P2860

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: toward mutation mapping of the iduronate-2-sulfatase gene

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome)

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene

Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

X-linked Hunter syndrome: the heterozygous phenotype in cell culture.

P304

137-140

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scholarly article

P356

10.1136/JMG.34.2.137

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2

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34

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1997-02-01T00:00:00Z

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14170913

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9039991

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1050868

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