scholarly journals Novel mutations of the CYP17A1 gene in four Chinese 46,XX cases with partial 17a-hydroxylase/17,20-lyase deficiency

Steroids ◽  
2021 ◽  
pp. 108873
Author(s):  
Yanjie Xia ◽  
Panlai Shi ◽  
Junke Xia ◽  
Huijuan Zhang ◽  
Lijun Xu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Lyase Deficiency

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

1999 ◽  
Vol 13 (3) ◽  
pp. 197-202 ◽  
Author(s):  
Sandrine Marie ◽  
Harry Cuppens ◽  
Michel Heuterspreute ◽  
Martine Jaspers ◽  
Eduardo Zambrano Tola ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Novel Mutations ◽  
Coding Sequence ◽  
Adenylosuccinate Lyase ◽  
Lyase Deficiency ◽  
Adenylosuccinate Lyase Deficiency

Expanding the clinical and genetic spectrum of 17α-Hydroxylase/17,20-Lyase deficiency: 7 cases and 5 novel mutations in the CYP17A1 gene

2020 ◽  
Author(s):  
Min Sun ◽  
Jonathan Müller ◽  
Lorna Gilligan ◽  
Angela Taylor ◽  
Fozia Shaheen ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Lyase Deficiency

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

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
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