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Article

[Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Nov 2019

Zhang Y D, Zuo N Y, Zhang S S, Dong Q W, Zhang S H, Ma L, Fu L B, Ding Z L

Abstract excerpt

1例主诉为"皮肤发黄6个月余加重3 d"的患儿，综合其临床症状、实验室检查及肝脏病理结果，并完善基因测序示SPTB基因移码突变：c.1791delG，为新发突变。诊断为遗传性球形红细胞增多症。以胆汁淤积起病的遗传性球形红细胞增多症少见。.

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Source

Identifiers

PMID: 31665849
DOI: 10.3760/cma.j.issn.0578-1310.2019.11.018

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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