Clinical heterogeneity and potential high pathogenicity of the mmalton alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states

HIGHLIGHTS

• who: Philippe Joly from the (UNIVERSITY) have published the research: Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states, in the Journal: (JOURNAL)
• what: The authors report four cases of A1ATD involving the deficient Pi Mmalton allele with very different clinical expressions: (i) one Mmalton/Mmalton with liver fibrosis and cirrhosis (ii) two Mmalton/Z with chronic pulmonary obstructive disease in one case and_(iii) one M/Mmalton without liver or lung disease. The study provides another example of Pi Mmalton homozygosity associated . . .
  

   

  

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