First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

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First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

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2016 nî lūn-bûn

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2016 թվականի հունվարին հրատարակված գիտական հոդված

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2016年の論文

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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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First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

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First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

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First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population.

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P1476

First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population

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P2093

Fatemeh Karami

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Mahdieh Talebzadeh

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Ziba Soltani

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P2860

Whole-genome analysis of Alu repeat elements reveals complex evolutionary history

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.

Adult phenylketonuria.

Allosteric regulation of phenylalanine hydroxylase.

Structural characterization of the N-terminal autoregulatory sequence of phenylalanine hydroxylase.

Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics.

Structural features of the regulatory ACT domain of phenylalanine hydroxylase.

Identification and characterization of large deletions in the phenylalanine hydroxylase (PAH) gene by MLPA: evidence for both homologous and non-homologous mechanisms of rearrangement.

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene

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e21633

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scholarly article

case report

P356

10.5812/IRCMJ.21633

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P433

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P478

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Vahid Reza Yassaee

Feyzollah Hashemi-Gorji

Mohammad Miryounesi

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2016-01-01T00:00:00Z

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283787682

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27175306

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4862320

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