Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport

American Journal of Human Genetics

Volumn 72, Issue 6, 2003, Pages 1359-1369

  Kolehmainen, Juha ^a,b   Black, Graeme C M ^f,g   Saarinen, Anne ^a,b   Chandler, Kate ^g   Clayton Smith, Jill ^g   Träskelin, Ann Liz ^a,b   Perveen, Rahat ^f   Kivitie Kallio, Satu ^c   Norio, Reijo ^e   Warburg, Metre ^h   Fryns, Jean Pierre ⁱ   De La Chapelle, Albert ^a,j   Lehesjoki, Anna Elina ^a,b,d,k  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^e Vaestoliitto   (Finland)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g ST MARY S HOSPITAL   (United Kingdom)

^h GLOSTRUP UNIVERSITY HOSPITAL   (Denmark)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j OHIO STATE UNIVERSITY   (United States)

^k UNIVERSITY OF HELSINKI   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; MEMBRANE PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL SELECTION; CELL VACUOLE; CHROMOSOME 8Q; CLINICAL ARTICLE; CLINICAL FEATURE; COH1 GENE; COHEN SYNDROME; CONTROLLED STUDY; FACIES; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC TRANSCRIPTION; HAPLOTYPE; HUMAN; INTRACELLULAR TRANSPORT; MALE; MUTATIONAL ANALYSIS; NEUTROPENIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN TRANSPORT; PSYCHOMOTOR DISORDER; RETINA DYSTROPHY; SACCHAROMYCES CEREVISIAE;

SACCHAROMYCES CEREVISIAE;

EID: 0038353767     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/375454     Document Type: Article

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