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Molecular Genetics and Metabolism

Volumn 102, Issue 4, 2011, Pages 505-507

Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism

(3) Miousse, Isabelle R a Watkins, David a Rosenblatt, David S a

a MCGILL UNIVERSITY (Canada)

Author keywords

CblF; Cobalamin; Homocysteine; LMBRD1; Lysosome; Methylmalonic acid

Indexed keywords

CYANOCOBALAMIN; HYDROXOCOBALAMIN; MEMBRANE PROTEIN; PROTEIN LMBRD1; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA SEQUENCE; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPERHOMOCYSTEINEMIA; INFANT; METHYLMALONIC ACIDEMIA; MUTATIONAL ANALYSIS; NEWBORN; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TREATMENT RESPONSE;

EXONS; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HETEROZYGOTE; HUMANS; HYPERHOMOCYSTEINEMIA; METABOLISM, INBORN ERRORS; METHYLMALONIC ACID; NUCLEOCYTOPLASMIC TRANSPORT PROTEINS; PROTEIN ISOFORMS; SEQUENCE DELETION; VITAMIN B 12;

EID: 79952628902 PISSN: 10967192 EISSN: 10967206 Source Type: Journal
DOI: 10.1016/j.ymgme.2011.01.002 Document Type: Article

Times cited : (19)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.