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

✍ Scribed by Velho, Renata Voltolini; Alegra, Taciane; Sperb, Fernanda; Ludwig, Nataniel Floriano; Saraiva-Pereira, Maria Luiza; Matte, Ursula; Schwartz, Ida V.D.

• Book ID: 123426090
• Publisher: Elsevier
• Year: 2014
• Tongue: English
• Weight: 359 KB
• Volume: 1
• Category: Article
• ISSN: 2214-4269
• DOI: 10.1016/j.ymgmr.2014.01.002