Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

American Journal of Human Genetics

Volumn 65, Issue 4, 1999, Pages 974-983

  Annunen, Susanna ^a   Körkkö, Jarmo ^a,c   Czarny, Malwina ^e   Warman, Matthew L ^f   Brunner, Han G ^g   Kääriäinen, Helena ^b   Mulliken, John B ^h   Tranebjærg, Lisbeth ^l   Brooks, David G ^d   Cox, Gerald F ⁱ   Cruysberg, Johan R ^g   Curtis, Mary A ^m   Davenport, Sandra L H ⁿ   Friedrich, Christopher A ^d   Kaitila, Ilkka ^b   Krawczynski, Maciej Robert ^e   Latos Bielenska, Anna ^e   Mukai, Shitzuo ^j   Olsen, Björn R ^k   Shinno, Nancy ^o   Somer, Mirja ^b   Vikkula, Miikka ^p   Zlotogora, Joel ^q   Prockop, Darwin J ^c   Ala Kokko, Leena ^a,c   more..

^a UNIVERSITY OF OULU   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^h Division of Plastic Surgery   (United States)

ⁱ BOSTON CHILDREN S HOSPITAL   (United States)

^j HARVARD SCHOOL OF DENTAL MEDICINE   (United States)

^k HARVARD MEDICAL SCHOOL   (United States)

^l UNIVERSITY HOSPITAL OF NORTH NORWAY   (Norway)

^m UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

ⁿ Sensory Genetics/Neuro Development   (United States)

^o KAISER PERMANENTE   (United States)

^p DE DUVE INSTITUTE   (Belgium)

^q HEBREW UNIVERSITY OF JERUSALEM   (Israel)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CARBOXY TERMINAL SEQUENCE; CHONDRODYSPLASIA; CLINICAL ARTICLE; DISEASE ASSOCIATION; EXON; GENE MUTATION; GENE STRUCTURE; HIGH MYOPIA; HUMAN; MARSHALL SYNDROME; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; PRIORITY JOURNAL; SPLICEOSOME; STICKLER SYNDROME;

EID: 0033365199     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302585     Document Type: Article

References (40)

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