A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA [1]

American Journal of Human Genetics

Volumn 59, Issue 6, 1996, Pages 1391-1393

  Sperandeo, M P ^a   De Franchis, R ^a   Andria, G ^a   Sebastio, G ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; MESSENGER RNA;

ALLELE; ALTERNATIVE RNA SPLICING; AMINO ACID METABOLISM; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE MUTATION; HOMOCYSTINURIA; HUMAN; LETTER; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR; VASCULAR DISEASE;

ALLELES; ALTERNATIVE SPLICING; CYSTATHIONINE BETA-SYNTHASE; HOMOCYSTINURIA; HUMANS; ITALY; MUTAGENESIS, INSERTIONAL;

EID: 0029852838     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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