A large family with MYH9 disorder caused by E1841K mutation suffering from serious kidney and hearing impairment and cataracts

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Bibliographic Details
Published in:Annals of hematology 2012-07, Vol.91 (7), p.1147-1148
Main Authors: Hao, Jihong, Kunishima, Shinji, Guo, Xin, Hu, Rui, Gao, Weiguo
Format: Article
Language:English
Subjects:
Amino Acid Substitution - genetics
Amino Acid Substitution - physiology
Cataract - complications
Cataract - genetics
Family Characteristics
Glutamic Acid - genetics
Hearing Loss - complications
Hearing Loss - genetics
Hematology
Humans
Kidney Diseases - complications
Kidney Diseases - genetics
Letter to the Editor
Lysine - genetics
Male
Medicine & Public Health
Middle Aged
Molecular Motor Proteins - genetics
Mutation, Missense - physiology
Myosin Heavy Chains - genetics
Oncology
Pedigree
Severity of Illness Index
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ISSN:0939-5555
1432-0584
DOI:10.1007/s00277-011-1370-5