A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

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http://www.wikidata.org/entity/Q44202629
SMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic modelsMolecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-TelangiectasiaCancer risk and the ATM gene: a continuing debate.ATM gene and lymphoid malignancies.Ataxia telangiectasia gene mutations in leukaemia and lymphoma.Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.Myoclonus in ataxia-telangiectasia.Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengths.Diagnostic dilemma: osteopetrosis with superimposed rickets causing neonatal hypocalcemia.Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.Membrane and transmembrane signaling in Herpesvirus saimiri-transformed human CD4(+) and CD8(+) T lymphocytes is ATM-independent.Gene Admixture in the Costa Rican Population
P2860

A model for ATM heterozygote identification in a large population: four founder-effect ATM mutations identify most of Costa Rican patients with ataxia telangiectasia.

Item
http://www.wikidata.org/entity/Q44202629
description
1998 nî lūn-bûn
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1998年の論文
@ja
1998年学术文章
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1998年学术文章
@zh
1998年学术文章
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1998年学术文章
@zh-hans
1998年学术文章
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1998年学术文章
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1998年學術文章
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1998年學術文章
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name
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@en
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@nl
type
label
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@en
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@nl
prefLabel
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@en
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
A model for ATM heterozygote i ...... ts with ataxia telangiectasia.
@en
P2093
P304
P31
P356
P433
P478
P50
P577
P698