Identification of a novel point mutation (Leu72Pro) in the NADH- cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I

British Journal of Haematology

Volumn 102, Issue 2, 1998, Pages 575-577

  Wu, Yu Shui ^a   Huang, Chang Hui ^b   Wan, Yao ^a   Huang, Qiao Jia ^a   Zhu, Zhong Yong ^a  

^a FUZHOU GENERAL HOSPITAL   (China)

^b Molecular Genetics Key Laboratory   (China)

Author keywords

b5R gene; Cytochrome b5 reductase; Methaemoglobinaemia; Mutations; Polymerase chain reaction

Indexed keywords

CYTOCHROME B5; CYTOCHROME REDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE;

ARTICLE; CASE REPORT; CHINESE; FEMALE; GENETIC POLYMORPHISM; HUMAN; METHEMOGLOBINEMIA; MISSENSE MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

CHILD, PRESCHOOL; CYTOCHROME REDUCTASES; CYTOCHROME-B(5) REDUCTASE; DNA, COMPLEMENTARY; FEMALE; HUMANS; METHEMOGLOBINEMIA; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0031870793     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1998.00782.x     Document Type: Article

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