Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H. Furuta

Nonsense Mutation of Islet-1 Gene (Q310X) Found in a Type 2 Diabetic Patient With a Strong Family History

Internal Medicine

English

Related publications

A Novel Nonsense Mutation of the PEPD Gene in a Japanese Patient With Prolidase Deficiency

Journal of Human Genetics

English

Identification of a Novel Nonsense Mutation in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1: A Case Report

BMC Medical Genetics

English

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

Multidisciplinary

English

A Novel Compound Heterozygous Mutation of the AIRE Gene in a Patient With Autoimmune Polyendocrine Syndrome Type 1

Annals of Pediatric Endocrinology and Metabolism

English

A Nonsense Mutation in the Fibrillin-1 Gene of a Marfan Syndrome Patient Induces NMD and Disrupts an Exonic Splicing Enhancer

Genes and Development

Developmental Biology

English

Next-Generation Sequencing Reveals a Nonsense Mutation (p.Arg364Ter) in MRE11A Gene in an Indian Patient With Familial Breast Cancer

English

A Novel Nonsense Mutation of ERCC2 in a Vietnamese Family With Xeroderma Pigmentosum Syndrome Group D

Human Genome Variation

Molecular Biology

English

A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

Molecular Biology

English

A Nonsense Mutation (E1978X) in the ATM Gene Is Associated With Breast Cancer

Breast Cancer Research and Treatment

Cancer Research

English