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# proj.
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# Ann.
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updated_at |
| PubMed |
10197086 |
Beta 3-adrenoreceptor gene polymorphism and leptin. Lack of relationship in type 2 diabetic patients.
INTRODUCTION: The beta 3-Adrenergic receptor (beta 3AR) and leptin are molecules involved in the r |
1.58 KB |
2015-11-15 |
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4 |
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3 |
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| PubMed |
10199792 |
Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous |
2.33 KB |
2015-11-15 |
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5 |
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20 |
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| PubMed |
10199795 |
A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.
Activating mutations of the TSH receptor (TSH-R) have been reported t |
1.47 KB |
2015-11-15 |
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8 |
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3 |
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| PubMed |
10199800 |
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans.
The melanocortin-4 receptor gene (MC4-R) ha |
2.69 KB |
2015-11-15 |
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6 |
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5 |
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| PubMed |
10200053 |
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.
Two missense mutations and a nine-nucleotide deletion of th |
1.01 KB |
2015-11-15 |
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8 |
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3 |
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| PubMed |
10200056 |
Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in br |
1.39 KB |
2015-11-15 |
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6 |
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3 |
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| PubMed |
10200057 |
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online.
PKU is one of the commonest |
1.04 KB |
2015-11-15 |
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6 |
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10 |
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| PubMed |
10200283 |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
Achondroplasia, the most common form of dwarfism in man, is a dominant genetic disorder caused by a point mu |
1.29 KB |
2015-11-15 |
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6 |
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3 |
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| PubMed |
10200987 |
Increased frequency of G-protein beta 3-subunit 825 T allele in dialyzed patients with type 2 diabetes.
BACKGROUND: A polymorphism (C825T) in exon 10 of the gene encoding the beta 3 subunit of heterot |
1.79 KB |
2015-11-15 |
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5 |
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10 |
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| PubMed |
10201973 |
Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction.
A mutation in the human (hu) IL-4R alpha, Q576R, has been linked wit |
1.06 KB |
2015-11-15 |
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6 |
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5 |
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