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

Orphanet Journal of Rare Diseases

Volumn 10, Issue 1, 2015, Pages

  Joly, Philippe ^a,c,d   Guillaud, Olivier ^a   Hervieu, Valérie ^a   Francina, Alain ^a   Mornex, Jean François ^c   Chapuis Cellier, Colette ^b  

^a EDOUARD HERRIOT HOSPITAL   (France)

^b CENTRE HOSPITALIER LYON SUD   (France)

^c UNIVERSITÉ LYON 1   (France)

^d INSTITUT UNIVERSITAIRE DE FRANCE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN;

ADULT; AGED; ALLELE; ARTICLE; CASE REPORT; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL FEATURE; CONCENTRATION (PARAMETERS); DNA SEQUENCE; FEMALE; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ISOELECTRIC FOCUSING; LIVER CIRRHOSIS; LIVER FIBROSIS; MALE; MIDDLE AGED; NULL ALLELE; PATHOGENICITY; PI MMALTON ALLELE; PROTEIN BLOOD LEVEL; PROTEIN DEFICIENCY; VERY ELDERLY; WILD TYPE; ALPHA 1-ANTITRYPSIN DEFICIENCY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

ADULT; AGED, 80 AND OVER; ALLELES; ALPHA 1-ANTITRYPSIN; ALPHA 1-ANTITRYPSIN DEFICIENCY; BASE SEQUENCE; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA;

EID: 84959530764     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-015-0350-6     Document Type: Article

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