Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

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Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families Alagille syndrome.SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation Submicroscopic deletions are rare in Alagille syndrome.

P2860

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P2860

Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

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http://www.wikidata.org/entity/Q35644009

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1995 nî lūn-bûn

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1995年の論文

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1995年論文

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1995年論文

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1995年論文

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1995年論文

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Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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P1476

Molecular analysis of 24 Alagi ...... Alagille region within 20p12.

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P2093

D A Piccoli

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E B Rand

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N B Spinner

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P F Whitington

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R Taub

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P2860

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A second-generation linkage map of the human genome.

Identification and analysis of the gene encoding human PC2, a prohormone convertase expressed in neuroendocrine tissues.

Alagille syndrome and deletion of 20p.

Segregation analysis of Alagille syndrome.

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction.

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

Alagille syndrome with de novo del(20) (p11.2).

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Construction of a 3.7-Mb physical map within human chromosome 20p12 ordering 18 markers in the Alagille syndrome locus.

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1068-1073

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scholarly article

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Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

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P2860

P2860

Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12.

description

name

type

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P1433

P1476

P2093

P2860

P304

P31

P407

P433

P478

P577

P698

P932

P1433

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P2093

P2860

P304

P31

P407

P433

P478

P577

P698

P932