Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine de ciency identi ed by newborn screening in shanghai, china

HIGHLIGHTS

• who: SLC and collaborators from the Sohag University, Egypt United States have published the article: Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine de ciency identi ed by newborn screening in Shanghai, China, in the Journal: (JOURNAL)
• what: The aim of this study was to analyze the clinical, biochemical, and molecular genetic characteristics of PCD patients identified by NBS in Shanghai.
• how: The mutations were identified using a normal human SLC22A5 sequence as a reference (NM_003060.4) and the gene sequencing results were compared with the data in the HGMD . . .
  

   

  

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