Mutation in the von Willebrand factor-A domain is not a prerequisite for the MATN3 mutation in multiple epiphyseal dysplasia [3]

American Journal of Medical Genetics

Volumn 136 A, Issue 3, 2005, Pages 285-286

  Maeda, Koichi ^a   Nakashima, Eiji ^a   Horikoshi, Taizo ^a   Mabuchi, Akihiko ^a   Ikegawa, Shiro ^a  

^a RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; VON WILLEBRAND FACTOR;

BONE DYSPLASIA; BONE RADIOGRAPHY; CASE REPORT; CONTROLLED STUDY; GENE; GENE MUTATION; HUMAN; LETTER; MALE; MATN3 GENE; MULTIPLE EPIPHYSEAL DYSPLASIA; OSTEOARTHRITIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SHORT STATURE;

ADULT; DNA MUTATIONAL ANALYSIS; EXTRACELLULAR MATRIX PROTEINS; GENOTYPE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; VON WILLEBRAND FACTOR;

EID: 22044447900     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30832     Document Type: Letter

References (11)

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