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Subject 616.042

4. Characterization of a novel POLD1 missense founder mutation in a Spanish population. (April 2017)

Authors:
Ferrer‐Avargues, Rosario; Díez‐Obrero, Virginia; Martín‐Tomás, Ester; Hernández‐Illán, Eva; Castillejo, María‐Isabel; Codoñer‐Alejos, Alan; Barberá, Víctor‐Manuel; Sánchez‐Heras, Ana‐Beatriz; Segura, Ángel; Juan, María‐José; Tena, Isabel; Castillejo, Adela; Soto, José‐Luis
Journal:
Journal of gene medicine
Issue:
Volume 19:Number 4(2017)
Page Start:
n/a
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

8. Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation. Issue 1 (January 2015)

Authors:
Aglan, Mona S.; Abdel-Hamid, Mohamed S.; Otaify, Ghada A.; Ismail, Somaia M.; Effat, Laila K.; Temtamy, Samia A.
Journal:
Middle East journal of medical genetics
Issue:
Volume 4:Issue 1(2015:Jan.)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗