1176C polymorphism in Japanese patients with glycogen storage disease type 1a

No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61-->stop) in the lipoprotein lipase gene.

Atherosclerosis·2001

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.

Human genetics·2000

Airflow limitation in Japanese smokers: significance of serum neutrophil elastase/alpha(1)-proteinase inhibitor ratio and FEV(1) (%pred) adjusted by pack-years.

Respiration; international review of thoracic diseases·2000

Crystallographic characterization of the membrane-binding domain of radixin.

Acta crystallographica. Section D, Biological crystallography·2000

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.

American journal of medical genetics·2000

Veterinary practice with chitin and chitosan.

EXS·2000

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Human genetics·2026

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

Human genetics·2026

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Human genetics·2026

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Human genetics·2026

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

Human genetics·2026

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Human genetics·2026

Whose Sincerely Held Beliefs Count? Political Ideology Shapes Perceptions of Religious Exemption Requests.

Personality & social psychology bulletin·2026

The Neuroscience of Religious and Spiritual Practices: A Systematic Review of Neurotheological Evidence.

Brain and behavior·2026

Preoperative Prayer and Postoperative Recovery Quality Among Patients Undergoing Thyroidectomy in South Korea.

Journal of religion and health·2026

Forgiveness Dynamics in Recovery: The Interplay of Offender Type, Social Desirability, and Psychological Well-Being Among Men in Recovery from Addiction in Israel.

Journal of religion and health·2026

Reconnecting body and soul: the nexus of spirituality, compassion and empathy in medical education.

Academic medicine : journal of the Association of American Medical Colleges·2026

A Preregistered, Prospective, Longitudinal Examination of the Impact of Self-Initiated Sexual Orientation Change Efforts on Health and Changes in Sexuality.

Archives of sexual behavior·2026

Related Experiment Videos

1176C polymorphism in Japanese patients with glycogen storage disease type 1a

Related Concept Videos

No evidence of accelerated atherosclerosis in a 66-yr-old chylomicronemia patient homozygous for the nonsense mutation (Tyr61-->stop) in the lipoprotein lipase gene.

Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.

Airflow limitation in Japanese smokers: significance of serum neutrophil elastase/alpha(1)-proteinase inhibitor ratio and FEV(1) (%pred) adjusted by pack-years.

Crystallographic characterization of the membrane-binding domain of radixin.

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.

Veterinary practice with chitin and chitosan.

Integrating genetic, historical, and demographic evidence to reconstruct Argentina's matrilineal ancestry.

Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer.

From targeted SCN1A analysis to whole exome sequencing: clinical utility and novel genetic findings in a Hungarian paediatric epilepsy cohort.

Genomic characterization of historical Jinlingnan individuals: insights into genetic continuity and trans-Eurasian signals in eastern China.

Clinical and zebrafish studies of truncating SF3B2-variants in craniofacial microsomia.

CRISPR/Cas9-based repair of a heterozygous HNF1A mutation in patient-derived hiPSCs.

Whose Sincerely Held Beliefs Count? Political Ideology Shapes Perceptions of Religious Exemption Requests.

The Neuroscience of Religious and Spiritual Practices: A Systematic Review of Neurotheological Evidence.

Preoperative Prayer and Postoperative Recovery Quality Among Patients Undergoing Thyroidectomy in South Korea.

Forgiveness Dynamics in Recovery: The Interplay of Offender Type, Social Desirability, and Psychological Well-Being Among Men in Recovery from Addiction in Israel.

Reconnecting body and soul: the nexus of spirituality, compassion and empathy in medical education.

A Preregistered, Prospective, Longitudinal Examination of the Impact of Self-Initiated Sexual Orientation Change Efforts on Health and Changes in Sexuality.

Related Experiment Videos

1176C polymorphism in Japanese patients with glycogen storage disease type 1a

Related Concept Videos

Related Articles