Mutations in the MATP Gene in Five German Patients Affected by Oculocutaneous Albinism Type 4

Human Mutation

Volumn 23, Issue 2, 2004, Pages 106-110

  Rundshagen, Uta ^a   Zühlke, Christine ^a,c   Opitz, Sven ^a   Schwinger, Eberhard ^a   Käsmann Kellner, Barbara ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b SAARLAND UNIVERSITY   (Germany)

^c Institut für Humangenetik   (Germany)

Author keywords

AIM1; Albinism; MATP; OCA; OCA4; Oculocutaneous albinism

Indexed keywords

GLYCINE CLEAVAGE SYSTEM; MONOPHENOL MONOOXYGENASE; TYROSINASE RELATED PROTEIN 1;

ARTICLE; CLINICAL ARTICLE; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GERMANY; HUMAN; MATP GENE; NUCLEOTIDE SEQUENCE; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; TYR GENE;

ADULT; ALBINISM, OCULOCUTANEOUS; ANTIGENS, NEOPLASM; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GERMANY; HUMANS; MALE; MEMBRANE PROTEINS; MEMBRANE TRANSPORT PROTEINS; MUTATION; MUTATION, MISSENSE;

MURINAE; OXALIS TUBEROSA;

EID: 1042299964     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10311     Document Type: Article

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