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Publications by Shinji Susa

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

Tohoku Journal of Experimental Medicine

Molecular Biology

English

Related publications

Exon 12 Ceruloplasmin Gene New Nonsense Mutation Causing Aceruloplasminemia in an Italian Patient

Open Journal of Internal Medicine

English

A Novel POLG Gene Mutation in a Patient With SANDO

Journal of Experimental and Integrative Medicine

Alternative Medicine

English

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

Journal of Human Genetics

English

A Novel Mutation in the NCF2 Gene in a CGD Patient With Chronic Recurrent Pneumopathy

Frontiers in Pediatrics

English

A Patient With Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

Multidisciplinary

English

Novel Mutation in the AAAS Gene in a Severely Affected Triple-A Syndrome Patient

Endocrinology & Metabolic Syndrome

English

Novel Mutation in the RNASEH1 Gene in a Chronic Progressive External Ophthalmoplegia Patient

Canadian Journal of Ophthalmology

English

A Novel E250X Mutation of the PIT1 Gene in a Patient With Combined Pituitary Hormone Deficiency.

Endocrine Journal

English

Detection of a Novel Mutation in the CACNA1A Gene

Twin Research and Human Genetics

English