Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).

Human mutation

Volumn 16, Issue 4, 2000, Pages 373-

  De Siervi, A ^a   Weiss Cadiz D E ^a   Parera, V E ^a   del C Batlle, A M ^a   Rossetti, M V ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; PORPHOBILINOGEN DEAMINASE; THREONINE;

ACUTE INTERMITTENT PORPHYRIA; ADOLESCENT; ADULT; ARTICLE; CHILD; ENZYMOLOGY; FEMALE; GENE DELETION; GENETICS; HUMAN; MALE; MIDDLE AGED; MISSENSE MUTATION;

ADOLESCENT; ADULT; CHILD; FEMALE; HUMANS; HYDROXYMETHYLBILANE SYNTHASE; MALE; METHIONINE; MIDDLE AGED; MUTATION, MISSENSE; PORPHYRIA, ACUTE INTERMITTENT; SEQUENCE DELETION; THREONINE;

MLCS; MLOWN;

EID: 0034294786     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200010)16:4<373::aid-humu14>3.0.co;2-a     Document Type: Article

References (0)