GENETIC AND CLINICAL CHARACTERIZATION OF PATIENTS WITH CYP1B1 GENE BIALLELIC VARIANTS

被引：0
|
作者：
Lima Caldeira, Gladys Tarcila [1 ]
Carvalho, Ana Luisa [2 ,3 ,4 ]
Egas, Conceicao [5 ,6 ]
Sobral, Isa [7 ]
Saraiva, Jorge M. [2 ,4 ,8 ]
机构：
[1] Univ Coimbra, Fac Med, Coimbra, Portugal
[2] Ctr Hosp Univ Coimbra CHUC, Hosp Pediatr, Med Genet Unit, Coimbra, Portugal
[3] Univ Coimbra, Univ Clin Genet, Fac Med, Coimbra, Portugal
[4] Clin Acad Ctr Coimbra CACC, Coimbra, Portugal
[5] BIOCANT Biotechnol Innovat Ctr, Next Gen Sequencing Unit, Cantanhede, Portugal
[6] Univ Coimbra, Ctr Neurosci & Cell Biol, Coimbra, Portugal
[7] Ctr Hosp Univ Coimbra CHUC, Dept Ophthalmol, Coimbra, Portugal
[8] Univ Coimbra, Univ Clin Pediat, Fac Med, Coimbra, Portugal
来源：
MEDICINE | 2023年 / 102卷 / 13期
关键词：
D O I：
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中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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页数：1
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