A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease

Journal Article A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease Get access Mohammad A. Rafi, Mohammad A. Rafi Departments of Medicine (Medical Genetics) and Biochemistry and Molecular Biology, Thomas Jefferson University, Jefferson Medical College1100 Walnut St, Philadelphia, Pennsylvania 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Paola Luzi, Paola Luzi Departments of Medicine (Medical Genetics) and Biochemistry and Molecular Biology, Thomas Jefferson University, Jefferson Medical College1100 Walnut St, Philadelphia, Pennsylvania 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Yue Qun Chen, Yue Qun Chen Departments of Medicine (Medical Genetics) and Biochemistry and Molecular Biology, Thomas Jefferson University, Jefferson Medical College1100 Walnut St, Philadelphia, Pennsylvania 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar David A. Wenger David A. Wenger * Departments of Medicine (Medical Genetics) and Biochemistry and Molecular Biology, Thomas Jefferson University, Jefferson Medical College1100 Walnut St, Philadelphia, Pennsylvania 19107, USA *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 8, August 1995, Pages 1285–1289, https://doi.org/10.1093/hmg/4.8.1285 Published: 01 August 1995 Article history Received: 22 March 1995 Revision received: 20 April 1995 Accepted: 20 April 1995 Published: 01 August 1995