新复合杂合突变致婴儿型低磷酸酯酶症1例及其家系分析
李登峰, 蓝丹, 钟京梓, Roma Kajal Dewan, 谢彦舒, 杨莹
Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis
LI Deng-Feng, LAN Dan, ZHONG Jing-Zi, Roma Kajal Dewan, XIE Yan-Shu, YANG Ying
中国当代儿科杂志
.
2017, (5): 539
-544
.
DOI: 10.7499/j.issn.1008-8830.2017.05.012
