G6PD mount sinai: A new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D)

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Vlachos, Adrianna ^a   Westwood, Beryl ^b   Lipton, Jeffrey M ^a   Beutler, Ernest ^b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GLUCOSE 6 PHOSPHATE DEHYDROGENASE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHEMISTRY; EXON; GENETICS; HEREDITARY HEMOLYTIC ANEMIA; HUMAN; MALE; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; POINT MUTATION; ADOLESCENT; AMINO ACID SEQUENCE; CLINICAL FEATURE; GENETIC ANALYSIS; GENETIC LINKAGE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE DEFICIENCY; HEMOLYTIC ANEMIA; JAUNDICE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMINO ACID SUBSTITUTION; ANEMIA, HEMOLYTIC, CONGENITAL; DNA; DNA MUTATIONAL ANALYSIS; EXONS; GLUCOSEPHOSPHATE DEHYDROGENASE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; POINT MUTATION;

EID: 0031964339     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110151     Document Type: Article

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