scholarly journals Compound heterozygosity for two novel mutations in the erythrocyte protein 4.2 gene causing spherocytosis in a Caucasian patient

2011 ◽  
Vol 152 (6) ◽  
pp. 780-783 ◽  
Author(s):  
Adrienne M. Hammill ◽  
Mary A. Risinger ◽  
Clinton H. Joiner ◽  
Mehdi Keddache ◽  
Theodosia A. Kalfa
Keyword(s):  
Compound Heterozygosity ◽  
Caucasian Patient ◽  
Novel Mutations ◽  
Protein 4.2

Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency

2006 ◽  
Vol 95 (01) ◽  
pp. 195-198 ◽  
Author(s):  
Hristo Stanchev ◽  
Malou Philips ◽  
Bruno O. Villoutreix ◽  
Lise Aksglæde ◽  
Stefan Lethagen ◽  
...  
Keyword(s):  
Bleeding Tendency ◽  
Compound Heterozygosity ◽  
Novel Mutations ◽  
Prothrombin Gene

scholarly journals Combined Pituitary Hormone Deficiency Caused by Compound Heterozygosity for Two Novel Mutations in the POU Domain of the PIT1/POU1F1 Gene1

2001 ◽  
Vol 86 (4) ◽  
pp. 1545-1550 ◽  
Author(s):  
Brenda I. Hendriks-Stegeman ◽  
Kevin D. Augustijn ◽  
Bert Bakker ◽  
Pieternella Holthuizen ◽  
Peter C. van der Vliet ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Compound Heterozygosity ◽  
Novel Mutations ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Pou Domain

scholarly journals Congenital Analbuminemia attributable to Compound Heterozygosity for Novel Mutations in the Albumin Gene

2005 ◽  
Vol 51 (7) ◽  
pp. 1256-1258 ◽  
Author(s):  
Filomena Campagna ◽  
Francesca Fioretti ◽  
Marco Burattin ◽  
Stefano Romeo ◽  
Federica Sentinelli ◽  
...  
Keyword(s):  
Compound Heterozygosity ◽  
Novel Mutations ◽  
Albumin Gene
Sign in / Sign up

Export Citation Format

Share Document