Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

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2002 nî lūn-bûn

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2002年の論文

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年学术文章

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2002年學術文章

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2002年學術文章

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2002年學術文章

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name

Clinical findings and biochemi ...... oxylase synthetase deficiency.

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Clinical findings and biochemi ...... oxylase synthetase deficiency.

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Clinical findings and biochemi ...... oxylase synthetase deficiency.

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Clinical findings and biochemi ...... oxylase synthetase deficiency.

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Clinical findings and biochemi ...... oxylase synthetase deficiency.

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Clinical findings and biochemi ...... oxylase synthetase deficiency.

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P1476

Clinical findings and biochemi ...... boxylase synthetase deficiency

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P2093

Boneh A

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Ciani F

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Donati MA

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Funghini S

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Malvagia S

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Pasquini E

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Pela I

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Peters H

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Zammarchi E

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P2860

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

Escherichia coli biotin holoenzyme synthetase/bio repressor crystal structure delineates the biotin- and DNA-binding domains

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

The DNA sequence of human chromosome 21

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

Function of a conserved sequence motif in biotin holoenzyme synthetases.

Expression in Escherichia coli of N- and C-terminally deleted human holocarboxylase synthetase. Influence of the N-terminus on biotinylation and identification of a minimum functional protein.

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10-18

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scholarly article

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10.1002/AJMG.10532

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P433

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111

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Amelia Morrone

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2002-07-01T00:00:00Z

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12124727

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P921

holocarboxylase synthetase deficiency