Journal of Genetic Syndromes & Gene Therapy

Journal of Genetic Syndromes & Gene Therapy
Open Access

ISSN: ISSN: 2157-7412

Volume 5, Issue 6 (2014)

Editorial

Pages: 1 - 2

Molecular Genetics and Gene Therapy Aspects of Phenylalanine Hydroxylase (PAH) Related Hyperphenylalaninemias

Youming Zhang and Xiaodan Yao

DOI: 10.4172/2157-7412.1000e125

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Research Article

Pages: 1 - 7

Segregation of Malignant Hematological Disease in Families with Malignant Lymphoma

Haneef Awan, Johanna Furuholmen, Geir E. Tjønnfjord, Bernt Ly, Tom Børge Johannesen, Anne Tierens, Jan Delabie and Viggo Jonsson

DOI: 10.4172/2157-7412.1000249

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Research Article

Pages: 1 - 6

A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)

Elise Schaefer, Maryline Minoux, Julia Lauer, Valérie Pelletier, Matthieu Schmittbuhl, Marie-Cécile Manière, François Clauss, Françis Veillon, Sophie Riehm, Corinne Stoetzel and Helene Dollfus

DOI: 10.4172/2157-7412.1000251

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Review Article

Pages: 1 - 6

The WD40 Repeat Protein Mutations: Genetics, Molecular Mechanisms and Therapeutic Implications

Caiguo Zhang

DOI: 10.4172/2157-7412.1000252

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