Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

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description

2010 nî lūn-bûn

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2010年の論文

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2010年学术文章

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2010年学术文章

@zh-cn

2010年学术文章

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2010年学术文章

@zh-my

2010年学术文章

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2010年學術文章

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2010年學術文章

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2010年學術文章

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name

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@en

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@nl

type

Item

label

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@en

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@nl

prefLabel

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@en

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@nl

P1476

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.

@en

P2093

Claudia Izzi

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Elena Marcocci

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Francesco Scolari

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Leonardo Salviati

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Mafalda Mucciolo

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Mirella Bruttini

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Vera Uliana

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P2860

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study

Alport's syndrome.

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis

Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).

2q24-q31 deletion: report of a case and review of the literature.

Chromatin insulators: regulatory mechanisms and epigenetic inheritance.

Esophageal leiomyomatosis in children: report of a case and review of the literature.

Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age.

P2888

s00467-010-1693-9

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717-724

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scholarly article

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10.1007/S00467-010-1693-9

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P433

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P478

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2010-12-14T00:00:00Z

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P6179

1027773151

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21380622

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