Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism

H. Kentrup,; J. Altmüller,; S. Karhausen,; Β.P. Hauffa,; R. Pfaffle,; G. Heimann,

doi:10.1515/IJDHD.2000.1.3.137

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Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism

H. Kentrup, , J. Altmüller, , S. Karhausen, , Β.P. Hauffa, , R. Pfaffle, und G. Heimann,

Veröffentlicht/Copyright: 1. Juli 2000

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Aus der Zeitschrift International Journal on Disability and Human Development Band 1 Heft 3

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Kentrup,, H., Altmüller,, J., Karhausen,, S., Hauffa,, Β.P., Pfaffle,, R. and Heimann,, G.. "Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism" International Journal on Disability and Human Development, vol. 1, no. 3, pp. 137-142. https://doi.org/10.1515/IJDHD.2000.1.3.137

Kentrup,, H., Altmüller,, J., Karhausen,, S., Hauffa,, Β., Pfaffle,, R. & Heimann,, G. (). Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism. International Journal on Disability and Human Development, 1(3), 137-142. https://doi.org/10.1515/IJDHD.2000.1.3.137

Kentrup,, H., Altmüller,, J., Karhausen,, S., Hauffa,, Β., Pfaffle,, R. and Heimann,, G. () Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism. International Journal on Disability and Human Development, Vol. 1 (Issue 3), pp. 137-142. https://doi.org/10.1515/IJDHD.2000.1.3.137

Kentrup,, H., Altmüller,, J., Karhausen,, S., Hauffa,, Β.P., Pfaffle,, R. and Heimann,, G.. "Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism" International Journal on Disability and Human Development 1, no. 3 (): 137-142. https://doi.org/10.1515/IJDHD.2000.1.3.137

Kentrup, H, Altmüller, J, Karhausen, S, Hauffa, Β, Pfaffle, R, Heimann, G. Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism. International Journal on Disability and Human Development. ;1(3): 137-142. https://doi.org/10.1515/IJDHD.2000.1.3.137

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Published Online: 2000-07

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CONTENTS
Letter from the Editors
Prader-Willi and Angelman Syndromes: Diagnostic Approach
Argl83His, a New Mutational "Hot-Spot" in the Growth Hormone Gene
Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism
De novo RET Mutation Positive Multiple Endocrine Neoplasia Type 2B and Hereditary Nonpolyposis Colorectal Cancer Syndrome Occurring in the Same Family: Parent-of-Origin and Mismatch Repair
Bromocriptine Resistant Prolactinomas and Non-Functioning Pituitary Tumors: Somatic Mutational Analyses of the Dopamine Type 2 Receptor and the MEN1 Gene
Genetic Studies in Familial Aldosteronism Not Suppressible by Dexamethasone
Recombination Between the Sodium Channel SCN8A and the Allgrove Syndrome Gene in a Puerto Rican Kindred
BOOK REVIEWS. CALENDAR

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https://doi.org/10.1515/IJDHD.2000.1.3.137

Artikel in diesem Heft

CONTENTS
Letter from the Editors
Prader-Willi and Angelman Syndromes: Diagnostic Approach
Argl83His, a New Mutational "Hot-Spot" in the Growth Hormone Gene
Novel Mutation (Arg836ter) of the Sulfonylurea Receptor-1 (SUR1) Gene in Congenital Hyperinsulinism
De novo RET Mutation Positive Multiple Endocrine Neoplasia Type 2B and Hereditary Nonpolyposis Colorectal Cancer Syndrome Occurring in the Same Family: Parent-of-Origin and Mismatch Repair
Bromocriptine Resistant Prolactinomas and Non-Functioning Pituitary Tumors: Somatic Mutational Analyses of the Dopamine Type 2 Receptor and the MEN1 Gene
Genetic Studies in Familial Aldosteronism Not Suppressible by Dexamethasone
Recombination Between the Sodium Channel SCN8A and the Allgrove Syndrome Gene in a Puerto Rican Kindred
BOOK REVIEWS. CALENDAR