(PDF) Nonsense Mutation in the Phosphofructokinase Muscle

Nonsense Mutation in the Phosphofructokinase Muscle Subunit Gene Associated With Retention of Intron 10 in One of the Isolated Transcripts in Ashkenazi Jewish Patients With Tarui Disease.

Proceedings of the National Academy of Sciences of the United States of America - United States

doi 10.1073/pnas.92.22.10322

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October 24, 1995

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Proceedings of the National Academy of Sciences

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Nonsense Mutation in the Phosphofructokinase Muscle Subunit Gene Associated With Retention of Intron 10 in One of the Isolated Transcripts in Ashkenazi Jewish Patients With Tarui Disease.

Proceedings of the National Academy of Sciences of the United States of America - United States

doi 10.1073/pnas.92.22.10322

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Phenotypic Characteristics Associated With the APC Gene I1307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps

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

The R245X Mutation of PCDH15 in Ashkenazi Jewish Children Diagnosed With Nonsyndromic Hearing Loss Foreshadows Retinitis Pigmentosa

Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease

A Founder Mutation in the Ashkenazi Jewish Population Affecting Messenger RNA Splicing of the CCM2 Gene Causes Cerebral Cavernous Malformations

The Jewish Ashkenazi Founder Mutations in the BRCA1/BRCA2 Genes Are Not Found at an Increased Frequency in Ashkenazi Patients With Prostate Cancer

A Dystroglycan Mutation (p.Cys667Phe) Associated to Muscle-Eye-Brain Disease With Multicystic Leucodystrophy Results in ER-retention of the Mutant Protein

Evaluation of 22 Genetic Variants With Crohn's Disease Risk in the Ashkenazi Jewish Population: A Case-Control Study

Irish Setter Dogs Affected With Rod/Cone Dysplasia Contain a Nonsense Mutation in the Rod cGMP Phosphodiesterase Beta-Subunit Gene.