Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. - Wikidata - awgldk - TriplyDB

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

http://www.wikidata.org/entity/Q35197829

about

Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency Genetic study of a new X-linked recessive immunodeficiency syndrome Genetic linkage heterogeneity in myotubular myopathy.Wiskott-Aldrich syndrome: a multidisciplinary disease T-Cell Lymphopenia Detected by Newborn Screening in Two Siblings with an Xq13.1 Duplication.

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P2860

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

http://www.wikidata.org/entity/Q35197829

description

1990 nî lūn-bûn

@nan

1990 թուականի Մայիսին հրատարակուած գիտական յօդուած

@hyw

1990 թվականի մայիսին հրատարակված գիտական հոդված

@hy

1990年の論文

@ja

1990年論文

@yue

1990年論文

@zh-hant

1990年論文

@zh-hk

1990年論文

@zh-mo

1990年論文

@zh-tw

1990年论文

@wuu

name

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@ast

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@en

type

label

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@ast

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@en

prefLabel

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@ast

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@en

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P1433

American Journal of Human Genetics

P1476

Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

@en

P2093

Arveiler B

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Fischer A

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

Griscelli C

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

Mandel JL

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de Saint-Basile G

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P2860

Molecular characterization of sialophorin (CD43), the lymphocyte surface sialoglycoprotein defective in Wiskott-Aldrich syndrome

Characterization of cDNAs encoding human leukosialin and localization of the leukosialin gene to chromosome 16

Strategies for multilocus linkage analysis in humans

Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

Carrier detection in the Wiskott Aldrich syndrome.

Review and hypotheses: somatic mosaicism: observations related to clinical genetics.

Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Maternal duplication associated with gene deletion in sporadic hemophilia.

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

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906-911

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scholarly article

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5

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46

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1990-05-01T00:00:00Z

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1971143

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1683605

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