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Literature DB >> 19320026

Novel human pathological mutations. Gene symbol: PLOD1. Disease: Ehlers-Danlos syndrome type VIA, kyphoscoliotic type.

Cecilia Giunta¹, Céline Bürer-Chambaz, Beat Steinmann.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2009 PMID： 19320026

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

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1. Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness - A Diagnostic Challenge?

Authors: Ariana Kariminejad; Bita Bozorgmehr; Alireza Khatami; Mohamad-Hasan Kariminejad; Cecilia Giunta; Beat Steinmann
Journal: Iran J Pediatr Date: 2010-09 Impact factor: 0.364

1 in total