Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE)

Human Genetics

Volumn 107, Issue 6, 2000, Pages 546-553

  Romstad, A ^a   Kalkanoglu H S ^a   Coskun T ^a   Demirkol, M ^a   Tokatli, A ^a   Dursun, A ^a   Baykal, T ^a   Ozalp I ^a   Guldberg, P ^a   Guttler F ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

NEUROTRANSMITTER;

ARTICLE; CHILD; CLINICAL ARTICLE; DENATURING GRADIENT GEL ELECTROPHORESIS; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HYPERPHENYLALANINEMIA; INFANT; MALE; MISSENSE MUTATION; NEUROLOGIC DISEASE; NEUROTRANSMITTER RELEASE; NEWBORN; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DIHYDROPTERIDINE REDUCTASE; DNA MUTATIONAL ANALYSIS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; FEMALE; GENETIC SCREENING; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PHENYLKETONURIAS; POLYMERASE CHAIN REACTION; TURKEY;

EID: 17744377598     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000407     Document Type: Article

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