Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia

S. Benvenga,; L. Bartolone,; R. Musolino,; R. Melluso,; A. Toscano,; G. Vita,; F. Trimarchi,

doi:10.1515/IJDHD.1999.1.2.101

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Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia

S. Benvenga, , L. Bartolone, , R. Musolino, , R. Melluso, , A. Toscano, , G. Vita, und F. Trimarchi,

Veröffentlicht/Copyright: 1. April 1999

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Aus der Zeitschrift International Journal on Disability and Human Development Band 1 Heft 2

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Benvenga,, S., Bartolone,, L., Musolino,, R., Melluso,, R., Toscano,, A., Vita,, G. and Trimarchi,, F.. "Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia" International Journal on Disability and Human Development, vol. 1, no. 2, pp. 101-104. https://doi.org/10.1515/IJDHD.1999.1.2.101

Benvenga,, S., Bartolone,, L., Musolino,, R., Melluso,, R., Toscano,, A., Vita,, G. & Trimarchi,, F. (). Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia. International Journal on Disability and Human Development, 1(2), 101-104. https://doi.org/10.1515/IJDHD.1999.1.2.101

Benvenga,, S., Bartolone,, L., Musolino,, R., Melluso,, R., Toscano,, A., Vita,, G. and Trimarchi,, F. () Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia. International Journal on Disability and Human Development, Vol. 1 (Issue 2), pp. 101-104. https://doi.org/10.1515/IJDHD.1999.1.2.101

Benvenga,, S., Bartolone,, L., Musolino,, R., Melluso,, R., Toscano,, A., Vita,, G. and Trimarchi,, F.. "Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia" International Journal on Disability and Human Development 1, no. 2 (): 101-104. https://doi.org/10.1515/IJDHD.1999.1.2.101

Benvenga, S, Bartolone, L, Musolino, R, Melluso, R, Toscano, A, Vita, G, Trimarchi, F. Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia. International Journal on Disability and Human Development. ;1(2): 101-104. https://doi.org/10.1515/IJDHD.1999.1.2.101

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Published Online: 1999-04

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CONTENTS
Letter from the Editors
Glucocorticoid Receptor Isoforms Alpha and Beta: Potential Physiological and Pathological Importance
NeuroD/Beta2 Polymorphism is Not Associated with Type 1 Diabetes in Chinese, Korean, or Caucasian Populations
CYP11B1 Intragenic Polymorphisms Give Evidence for a Different Q356X Allele in an African-Brazilian Patient
Mutations in the CFTR Gene are Not a Common Finding in Patients with Diabetes
A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism
Growth Hormone Insensitivity (Laron Syndrome) in a Russian Girl of Slavic Origin Caused by a Common Mutation of the GH Receptor Gene
Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia
FORUM AND CORRESPONDENCE. BOOK REVIEWS. CALENDAR

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https://doi.org/10.1515/IJDHD.1999.1.2.101

Artikel in diesem Heft

CONTENTS
Letter from the Editors
Glucocorticoid Receptor Isoforms Alpha and Beta: Potential Physiological and Pathological Importance
NeuroD/Beta2 Polymorphism is Not Associated with Type 1 Diabetes in Chinese, Korean, or Caucasian Populations
CYP11B1 Intragenic Polymorphisms Give Evidence for a Different Q356X Allele in an African-Brazilian Patient
Mutations in the CFTR Gene are Not a Common Finding in Patients with Diabetes
A Novel Mutation (W718S) in the Steroid-Binding Domain of the Androgen Receptor Gene in a Boy with Ambiguous Genitalia and Hypergonadotrophic Hypogonadism
Growth Hormone Insensitivity (Laron Syndrome) in a Russian Girl of Slavic Origin Caused by a Common Mutation of the GH Receptor Gene
Homozygous Transthyretin Leu64: A Very Rare Transthyretin Mutation Associated With Amyloidosis but Not With Euthyroid Hyperthyroxinemia
FORUM AND CORRESPONDENCE. BOOK REVIEWS. CALENDAR