Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere - Wikidata - awgldk - TriplyDB

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere

http://www.wikidata.org/entity/Q30445566

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Report of a critical recombination further narrowing the TSC1 region.Computer simulation of linkage and heterogeneity in tuberous sclerosis: a critical evaluation of the collaborative family data Phenotypic variation of tuberous sclerosis in a single extended kindred Molecular analysis of the human vitamin D binding protein (group specific component, Gc) in tuberous sclerosis complex (TSC).Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.

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P2860

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere

http://www.wikidata.org/entity/Q30445566

description

1992 nî lūn-bûn

@nan

1992 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

1992 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

1992年の論文

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1992年論文

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1992年論文

@zh-hant

1992年論文

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1992年論文

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1992年論文

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1992年论文

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name

Evidence for genetic heterogen ...... d at least one locus elsewhere

@ast

Evidence for genetic heterogen ...... d at least one locus elsewhere

@en

type

label

Evidence for genetic heterogen ...... d at least one locus elsewhere

@ast

Evidence for genetic heterogen ...... d at least one locus elsewhere

@en

prefLabel

Evidence for genetic heterogen ...... d at least one locus elsewhere

@ast

Evidence for genetic heterogen ...... d at least one locus elsewhere

@en

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P1433

American Journal of Human Genetics

P1476

Evidence for genetic heterogen ...... d at least one locus elsewhere

@en

P2093

D J Kwiatkowski

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

E Rodriguez

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

E S Roach

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

G E Herman

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

H Northrup

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

R A Lewis

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S H Blanton

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W B Dobyns

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P2860

Strategies for multilocus linkage analysis in humans

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

Evidence that the gene for tuberous sclerosis is on chromosome 9

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations

Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

Evidence for genetic heterogeneity in tuberous sclerosis.

Linkage of the tuberous sclerosis locus to a DNA polymorphism detected by v-abl.

Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

P304

709-720

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scholarly article

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4

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51

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P50

Stephen P. Daiger

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1992-10-01T00:00:00Z

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1415216

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P932

1682771

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