scholarly journals Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia

2021 ◽  
Author(s):  
Anasufiza Habib ◽  
Nor Azimah Abdul Azize ◽  
Salina Abd Rahman ◽  
Yusnita Yakob ◽  
Vengadeshwaran Suberamaniam ◽  
...  
Keyword(s):  
Carnitine Palmitoyl Transferase ◽  
Novel Mutations ◽  
Acylcarnitine Translocase

scholarly journals Three novel mutations in the carnitine–acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals

2013 ◽  
Vol 58 (12) ◽  
pp. 788-793 ◽  
Author(s):  
Takao Fukushima ◽  
Hidetoshi Kaneoka ◽  
Tetsuhiko Yasuno ◽  
Yukari Sasaguri ◽  
Tomoko Tokuyasu ◽  
...  
Keyword(s):  
Healthy Individuals ◽  
Novel Mutations ◽  
Acylcarnitine Translocase

scholarly journals Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency

2000 ◽  
Vol 45 (1) ◽  
pp. 52-55 ◽  
Author(s):  
A. Ogawa ◽  
S. Yamamoto ◽  
M. Kanazawa ◽  
M. Takayanagi ◽  
S. Hasegawa ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Acylcarnitine Translocase

Two novel mutations of RUNX2 gene in two sporadic cleidocranial dysplasia patients

2016 ◽  
Author(s):  
Cong Zhang ◽  
Yan Jiang ◽  
Xiaoping Xing ◽  
Mei Li ◽  
Ou Wang ◽  
...  
Keyword(s):  
Cleidocranial Dysplasia ◽  
Novel Mutations

Carnitine Palmitoyl Transferase 1A Is a Novel Serum Biomarker for the Diagnosis of Breast Cancer

2019 ◽  
Author(s):  
Zheqiong Tan ◽  
Yaru Zou ◽  
Man Zhu ◽  
Zhenzhao Luo ◽  
Tangwei Wu ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Serum Biomarker ◽  
Carnitine Palmitoyl Transferase

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations

scholarly journals Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds

2000 ◽  
Vol 41 (3) ◽  
pp. 433-441
Author(s):  
Margaret E. Brousseau ◽  
Ernst J. Schaefer ◽  
Josee Dupuis ◽  
Brenda Eustace ◽  
Paul Van Eerdewegh ◽  
...  
Keyword(s):  
Atp Binding ◽  
Tangier Disease ◽  
Novel Mutations ◽  
Gene Encoding ◽  
Atp Binding Cassette
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