Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

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Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

@yue

2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

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Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

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Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

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P1476

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2

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P2093

Manuel Méndez

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Marta Morado-Arias

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María-Cristina Fernández-Jiménez

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María-Isabel Moreno-Carralero

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María-José Morán-Jiménez

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Silvia de la Iglesia Iñigo

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P2860

Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans.

X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns

A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.

A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia.

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age.

A genetic score for the prediction of beta-thalassemia severity.

X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation.

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Genetic modifiers of sickle cell disease

X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2).

P304

273-282

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P31

scholarly article

P356

10.1002/MGG3.202

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P433

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

P478

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P577

2016-01-13T00:00:00Z

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P5875

290441701

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P698

27247955

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P932

4867561

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