Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

2000 ◽  
Vol 16 (5) ◽  
pp. 401-407 ◽  
Author(s):  
Yuhuan Wang ◽  
Franco Taroni ◽  
Barbara Garavaglia ◽  
Nicola Longo
Keyword(s):  
Functional Analysis ◽  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency

scholarly journals Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

2013 ◽  
Vol 34 (4) ◽  
pp. 655-655 ◽  
Author(s):  
Yi-Chen Chen ◽  
Yin-Hsiu Chien ◽  
Pin-Wen Chen ◽  
Nelson Leung-Sang Tang ◽  
Pao-Chin Chiu ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency ◽  
Carnitine Uptake

scholarly journals Genotype-phenotype correlation in primary carnitine deficiency

2011 ◽  
Vol 33 (1) ◽  
pp. 118-123 ◽  
Author(s):  
Emily C. Rose ◽  
Cristina Amat di San Filippo ◽  
Uzochi C. Ndukwe Erlingsson ◽  
Orly Ardon ◽  
Marzia Pasquali ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency

scholarly journals Genotype-Phenotype Correlation, Colonic Transcription and Functional Analysis Implicate Vav3 in Colitis

2011 ◽  
Vol 140 (5) ◽  
pp. S-177
Author(s):  
Scott E. Levison ◽  
Paul Fisher ◽  
John McLaughlin ◽  
Richard K. Grencis ◽  
Joanne L. Pennock
Keyword(s):  
Functional Analysis ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

2001 ◽  
Vol 10 (4) ◽  
pp. 305-316 ◽  
Author(s):  
Mariona Font ◽  
Lídia Feliubadaló ◽  
Xavier Estivill ◽  
Virginia Nunes ◽  
Eliahu Golomb ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Type I ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
Sign in / Sign up

Export Citation Format

Share Document