Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

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Recent advances in the genetics and management of harlequin ichthyosis.Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan.

P2860

Q38219629-F0E44876-D872-48C2-8384-090EC1DB5582 Q52659034-449A0F3F-117E-4A87-A43C-8C0353D0E1E2

P2860

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

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http://www.wikidata.org/entity/Q54361332

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2011 nî lūn-bûn

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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2011年學術文章

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2011年學術文章

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name

Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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P1476

Novel adenosine triphosphate ( ...... al ichthyosiform erythroderma.

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P2093

D Tsuruta

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H Shimizu

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K Izu

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

K Masuda

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K Sakai

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K Teye

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M Akiyama

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N Ishii

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S Fukuda

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S Sakaguchi

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P2860

Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population

Localization of ABCA12 from Golgi apparatus to lamellar granules in human upper epidermal keratinocytes

Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia

Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Genome-wide allele-specific analysis: insights into regulatory variation.

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218-221

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scholarly article

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10.1111/J.1365-2133.2011.10516.X

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English

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166

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2011-09-29T00:00:00Z

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P921

congenital ichthyosiform erythroderma

adenosine triphosphate

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

about

P2860

P2860

Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.

description

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