Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn

被引：0
作者：
Thodi, Georgia [2 ]
Schulpis, Kleopatra H. [3 ]
Hatzidaki, Maria [2 ]
Molou, Elina [2 ]
Triantafylli, Olga [2 ]
Dotsikas, Yannis [1 ]
Loukas, Yannis L. [1 ]
机构：
[1] Univ Athens, Sch Pharm, Dept Pharmaceut Chem, GR-15771 Athens, Greece
[2] Neoscreen Ltd, Lab Prenatal & Neonatal Screening, Athens, Greece
[3] Aghia Sophia Childrens Hosp, Inst Child Hlth, Athens, Greece
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2016年 / 29卷 / 03期
关键词：
molecular testing; newborn screening; novel mutations; partial biotinidase deficiency; GENE;
D O I：
10.1515/jpem-2015-0387
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：389 / 390
页数：2
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