A novel mutation in DDR2 causing spondylo-meta-epiphyseal...

BMC Medical Genetics 2014 / 12 Vol. 15; Iss. 1

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Al-Kindi, Adila, Kizhakkedath, Praseetha, Xu, Huifang, John, Anne, Sayegh, Abeer, Ganesh, Anuradha, Al-Awadi, Maha, Al-Anbouri, Lamya, Al-Gazali, Lihadh, Leitinger, Birgit, Ali, Bassam R
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Volume:
15
Language:
english
Journal:
BMC Medical Genetics
DOI:
10.1186/1471-2350-15-42
Date:
December, 2014
File:
PDF, 839 KB
english, 2014
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