Medical Journals

Topic: Child, Preschool

Journal: Human Mutation

Documents

A list of abstracts that contain a topic of "Child, Preschool" and a journal name of "Human Mutation".

Recessive Dystrophic Epidermolysis Bullosa Caused by Col7a1 Hemizygosity and a Missense Mutation with Complex Effects on Splicing.

PMID: 16470588
A Homozygous Nonsense Mutation in the Methylmalonyl-coa Epimerase Gene (Mcee) Results in Mild Methylmalonic Aciduria.

PMID: 16752391
Spectrum of Nphp6/Cep290 Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype.

PMID: 17345604
Novel Prg4 Mutations Underlie Cacp in Saudi Families.

PMID: 16429407
Mutation Study of Spanish Patients with Hereditary Hemorrhagic Telangiectasia and Expression Analysis of Endoglin and Alk1.

PMID: 16470589

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Medical Journals

Topic: Child, Preschool

Journal: Human Mutation

Documents

Recessive Dystrophic Epidermolysis Bullosa Caused by Col7a1 Hemizygosity and a Missense Mutation with Complex Effects on Splicing.

A Homozygous Nonsense Mutation in the Methylmalonyl-coa Epimerase Gene (Mcee) Results in Mild Methylmalonic Aciduria.

Spectrum of Nphp6/Cep290 Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype.

Novel Prg4 Mutations Underlie Cacp in Saudi Families.

Mutation Study of Spanish Patients with Hereditary Hemorrhagic Telangiectasia and Expression Analysis of Endoglin and Alk1.

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