Mutations in the Δ1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

Human Molecular Genetics

Volumn 7, Issue 9, 1998, Pages 1411-1415

  Geraghty, Michael T ^a   Vaughn, D ^b,e   Nicholson, A J ^c   Lin, Wei Wen ^a   Jimenez Sanchez, Gerardo ^a   Obie, Cassandra ^a   Flynn, M P ^d   Valle, David ^a   Hu, Chien An A ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^c OLHSC ^*  (Ireland)

^d Willow Brook   (Ireland)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROLINE; PYRROLINE 5 CARBOXYLATE REDUCTASE; ALDH4A1 PROTEIN, HUMAN; COMPLEMENTARY DNA; OXIDOREDUCTASE; PRIMER DNA; PYRROLINE 5 CARBOXYLATE DEHYDROGENASE;

ALLELE; ARTICLE; CASE REPORT; EXPRESSION VECTOR; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEGREGATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HYPERPROLINEMIA; IRELAND; MISSENSE MUTATION; NONHUMAN; PEDIGREE; POPULATION GENETICS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SACCHAROMYCES CEREVISIAE; SPAIN; AMINO ACID SEQUENCE; CELL LINE; CLASSIFICATION; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; ENZYMOLOGY; FEMALE; GENE EXPRESSION; GENETICS; GROWTH, DEVELOPMENT AND AGING; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION;

SACCHAROMYCES CEREVISIAE;

1-PYRROLINE-5-CARBOXYLATE DEHYDROGENASE; ALLELES; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE; DNA PRIMERS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; HUMANS; MALE; MUTATION; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROLINE; SACCHAROMYCES CEREVISIAE;

EID: 0031596295     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.9.1411     Document Type: Article

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