✦ LIBER ✦

A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

✍ Scribed by Saranjam, Hamid; Chopra, Sameer S; Levy, Harvey; Stubblefield, Barbara K; Maniwang, Emerson; Cohen, Ian J; Baris, Hagit; Sidransky, Ellen; Tayebi, Nahid

Book ID: 120326082
Publisher: Nature Publishing Group
Year: 2012
Tongue: English
Weight: 344 KB
Volume: 21
Category: Article
ISSN: 1018-4813
DOI: 10.1038/ejhg.2012.105

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A Germline Mutation in Two Families with

A Germline Mutation in Two Families with Gaucher Disease

✍ Nahid Tayebi; Hamid Saranjam; Sameer Chopra; Harvey Levy; Barbara K. Stubblefiel 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 55 KB

A de novo or germline mutation in a fami

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

✍ Velho, Renata Voltolini; Alegra, Taciane; Sperb, Fernanda; Ludwig, Nataniel Flor 📂 Article 📅 2014 🏛 Elsevier 🌐 English ⚖ 359 KB

Unexpected heterogeneity due to recessiv

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: Implication for genetic counseling

✍ Nejat Mahdieh; Atefeh Shirkavand; Marzieh Raeisi; Mohammad Taghi Akbari; Mustafa 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 252 KB

Mutation analysis of the RET proto-oncog

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A

✍ Landsvater, RudyM.; Jansen, RumoP.M.; Hofstra, RobertM.W.; Buys, CharlesH.C.M.; 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 532 KB

Identification of a novelBRCA1nucleotide

Identification of a novelBRCA1nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer

✍ Thomas v. O. Hansen; Lars Jønson; Anders Albrechtsen; Ane Y. Steffensen; Eva Ber 📂 Article 📅 2010 🏛 Springer US 🌐 English ⚖ 382 KB

De novo CIAS1 mutations, cytokine activa

De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases

✍ Ivona Aksentijevich; Miroslawa Nowak; Mustapha Mallah; Jae Jin Chae; Wendy T. Wa 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB 👁 2 views