1.
Hypertension
; 53(6): 893-7, 2009 Jun.
Article
in English
| MEDLINE
| ID: mdl-19349556
Subject(s)
Dietary Supplements , Gitelman Syndrome/diagnosis , Gitelman Syndrome/drug therapy , Adult , Blood Chemical Analysis , Drug Therapy, Combination , Female , Genetic Predisposition to Disease , Humans , Hypotension/diagnosis , Hypotension/drug therapy , Kidney Function Tests , Magnesium/therapeutic use , Magnesium Deficiency/diagnosis , Magnesium Deficiency/drug therapy , Male , Muscle Weakness/diagnosis , Muscle Weakness/drug therapy , Pedigree , Potassium/therapeutic use , Prognosis , Risk Assessment , Severity of Illness Index , Young Adult
2.
Hum Mutat
; 26(1): 60, 2005 Jul.
Article
in English
| MEDLINE
| ID: mdl-15954103
ABSTRACT
This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate of 90% was achieved among patients with typical clinical symptoms and a characteristic family history in both X-linked and autosomal recessive forms, and it can be assumed that most relevant mutations have been identified. In numerous positively tested patients, genetic variations which are unknown were detected.
