Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

✍ Scribed by Lisbeth Birk Møller; Zeynep Tümer; Connie Lund; Carsten Petersen; Trevor Cole; Ralf Hanusch; Jürg Seidel; Lars Riff Jensen; Nina Horn

• Book ID: 117853237
• Publisher: American Society of Human Genetics
• Year: 2000
• Tongue: English
• Weight: 706 KB
• Volume: 66
• Category: Article
• ISSN: 0002-9297
• DOI: 10.1086/302857