scholarly journals Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications

2001 ◽  
Vol 68 (1) ◽  
pp. 46-63 ◽  
Author(s):  
Sandro Rossetti ◽  
Lana Strmecki ◽  
Vicki Gamble ◽  
Sarah Burton ◽  
Vicky Sneddon ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Pkd1 Gene

Determination of haemophilia A carrier status by mutation analysis

Haemophilia ◽  
2001 ◽  
Vol 7 (1) ◽  
pp. 20-25 ◽  
Author(s):  
S. Oranwiroon ◽  
V. Akkarapatumwong ◽  
P. Pung-Amritt ◽  
A. Treesucon ◽  
G. Veerakul ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Carrier Status ◽  
Haemophilia A

homeodomain mutation analysis in patients with Müllerian system anomalies

1998 ◽  
Vol 5 (1) ◽  
pp. 140A-140A ◽  
Author(s):  
J STELLING ◽  
B BHAGAVATH ◽  
M GRAY ◽  
R REINDOLLAR
Keyword(s):  
Mutation Analysis

ALK Mutation Analysis in Patients of the German Neuroblastoma Study

2009 ◽  
Vol 221 (03) ◽  
Author(s):  
B Brockmeyer ◽  
JH Schulte ◽  
A Oberthuer ◽  
P Mestdagh ◽  
K Pajtler ◽  
...  
Keyword(s):  
Mutation Analysis

Mutation analysis of urea cycle disorders

2016 ◽  
Vol 04 (01) ◽  
pp. 033-043
Author(s):  
Johannes Häberle ◽  
Véronique Rüfenacht
Keyword(s):  
Mutation Analysis ◽  
Urea Cycle ◽  
Urea Cycle Disorders ◽  
Cycle Disorders

Haemophilia Registry of the Medical Committee of the Swiss Haemophilia Society

2009 ◽  
Vol 29 (S 01) ◽  
pp. S16-S18 ◽  
Author(s):  
B. Brand ◽  
N. von der Weid
Keyword(s):  
Quality Control ◽  
Infectious Diseases ◽  
Mutation Analysis ◽  
Clinical Data ◽  
Age Groups ◽  
Treatment Modalities ◽  
Global Survey ◽  
On Demand ◽  
Per Capita ◽  
Severity Of The Disease

SummaryThe Swiss Haemophilia Registry of the Medical Committee of the Swiss Haemophilia Society was established in 2000. Primarily it bears epidemiological and basic clinical data (incidence, type and severity of the disease, age groups, centres, mortality). Two thirds of the questions of the WFH Global Survey can be answered, especially those concerning use of concentrates (global, per capita) and treatment modalities (on-demand versus prophylactic regimens). Moreover, the registry is an important tool for quality control of the haemophilia treatment centres.There are no informations about infectious diseases like hepatitis or HIV, due to non-anonymisation of the data. We plan to incorporate the results of the mutation analysis in the future.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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