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GENE VARIANT [2 records]

Filter results by subject field Alphabetical list of terms

Filter results by subject field

Alphabetical list of terms

Record 1 2011-08-01

English

Subject field(s)
  • Symptoms (Medicine)
DEF

The concurrence of having two kinds of serum albumin that differ in mobility on electrophoresis : normal albumin(albumin A) and any one of several variant types that migrate at other speeds; individuals are heterozygous for the gene for albumin A and the gene for the variant albumin type.

French

Domaine(s)
  • Symptômes (Médecine)
DEF

Présence dans le sérum sanguin d'albumine dédoublée mise en évidence par la différence de leur mobilité lors de l'électrophorèse.

Spanish

Save record 1

Record 2 2010-09-15

English

Subject field(s)
  • The Pancreas
  • Endocrine System and Metabolism
DEF

[A form of diabetes insipidus that] is characterized by a decrease in the ability to concentrate urine due to a resistance to ADH [antidiuretic hormone] action in the kidney.

OBS

The rare hereditary form of nephrogenic DI is transmitted as an X-linked genetic defect of the V2 receptor gene. A rare autosomal variant is caused by mutation in the aqua porin gene AQP2, a water-channel exclusively expressed in the collecting ducts of the kidney.

French

Domaine(s)
  • Pancréas
  • Systèmes endocrinien et métabolique
DEF

[Diabète insipide qui] se caractérise par une diminution de la capacité de concentration urinaire résultant d'une résistance rénale à l'action de l'hormone antidiurétique.

Spanish

Save record 2

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