Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene

VURAL SEÇİL; ERTOP PELİN; DURMAZ CEREN DAMLA; ŞANLI HATİCE; OKÇU HEPER AYLİN; KUNDAKÇI NİHAL; KARABULUT HALİL GÜRHAN; ILGIN RUHİ HATİCE

doi:10.1159/000475908

Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene

VURAL SEÇİL,ERTOP PELİN,DURMAZ CEREN DAMLA,ŞANLI HATİCE,OKÇU HEPER AYLİN,KUNDAKÇI NİHAL,KARABULUT HALİL GÜRHAN,ILGIN RUHİ HATİCE

article (Uluslararası, Hakemli) | Yazar(lar): VURAL SEÇİL,ERTOP PELİN,DURMAZ CEREN DAMLA,ŞANLI HATİCE,OKÇU HEPER AYLİN,KUNDAKÇI NİHAL,KARABULUT HALİL GÜRHAN,ILGIN RUHİ HATİCE | Yıl: 2017 | Dergi/Kurum: CYTOGENETIC AND GENOME RESEARCH | İndeks: SCI-Expanded | DOI: 10.1159/000475908 — Zonguldak Bülent Ecevit Üniversitesi