Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the biSLC29A3/i/b Gene

Vural Seçil; ERTOP PELİN; DURMAZ CEREN DAMLA; ŞANLI HATİCE; okçu heper aylin; kundakçı nihal; 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 biSLC29A3/i/b Gene

Vural Seçil,ERTOP PELİN,DURMAZ CEREN DAMLA,ŞANLI HATİCE,okçu heper aylin,kundakçı nihal,KARABULUT HALİL GÜRHAN,ILGIN RUHİ HATİCE

article (Uluslararası, Hakemli) | Yazar(lar): Vural Seçil,ERTOP PELİN,DURMAZ CEREN DAMLA,ŞANLI HATİCE,okçu heper aylin,kundakçı nihal,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