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New homozygous SPINK5 mutation, p.Gln333X, in a Turkish pedigree with Netherton syndrome

✍ Scribed by K. Fong; S. Akdeniz; H. Isi; M. Taskesen; J. A. McGrath; J. E. Lai-Cheong

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A New SPINK5 Mutation in a Patient with

✍ Maria G. Alpigiani; Pietro Salvati; Maria Cristina Schiaffino; Corrado Occella; 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 142 KB

A new Turkish infant with clinical featu

✍ Moortgat, Stephanie; Benoit, Valerie; Deprez, Marie; Charon, Anne; Maystadt, Isa 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 774 KB

Netherton syndrome in two Japanese sibli

✍ Y. Shimomura; N. Sato; N. Kariya; S. Takatsuka; M. Ito 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 458 KB

An Indian child with Kindler syndrome re

✍ G. Sethuraman; H. Fassihi; G. H. S. Ashton; A. Bansal; M. Kabra; V. K. Sharma; J 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 243 KB

An Indian child with Kindler syndrome re

📂 Article 📅 2005 🏛 Elsevier Science 🌐 English ⚖ 45 KB

Identification of a new homozygous frame

✍ Makoto Eriguchi; Haruo Mizuta; Kazuhiro Kurohara; Junko Fujitake; Yasuo Kuroda 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 774 KB