CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G

2020 ◽  
Author(s):  
Min Moon Tang ◽  
Wooi Chiang Tan ◽  
Uttam Surana ◽  
Kin Fon Leong ◽  
Zacharias Aloysius Dwi Pramano
Keyword(s):  
Missense Mutation ◽  
Heterozygous Missense Mutation ◽  
Child Syndrome

KID syndrome in a Malaysian child with identification of novel heterozygous missense mutation GJB2 c.581T>A(p. 194Phe>Tyr)

2021 ◽  
Author(s):  
Min Moon Tang ◽  
Uttam Surana ◽  
Kin F. Leong ◽  
Zacharias Aloysius Dwi Pramano
Keyword(s):  
Missense Mutation ◽  
Heterozygous Missense Mutation

Autosomal dominant bullous dermolysis of the newborn associated with a heterozygous missense mutation p.G1673R in type VII collagen

2010 ◽  
Vol 52 (4) ◽  
pp. e1-e4 ◽  
Author(s):  
John Frew ◽  
Shueh W Lim ◽  
Alfred Klausseger ◽  
Chung W Chow ◽  
Kim Tran ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Autosomal Dominant ◽  
Heterozygous Missense Mutation ◽  
Type Vii Collagen

A novel heterozygous missense mutation in the vasopressin moiety is identified in a Japanese person with neurohypophyseal diabetes insipidus

2006 ◽  
Vol 29 (3) ◽  
pp. 252-256 ◽  
Author(s):  
H. Kobayashi ◽  
I. Fujisawa ◽  
K. Ikeda ◽  
C. Son ◽  
T. Iwakura ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Missense Mutation ◽  
Heterozygous Missense Mutation

Premature Ovarian Failure Caused by a Heterozygous Missense Mutation in POF1B and a Reciprocal Translocation 46,X,t(X;3)(q21.1;q21.3)

2015 ◽  
Vol 9 (2) ◽  
pp. 86-90 ◽  
Author(s):  
Susanne Ledig ◽  
Sabine Preisler-Adams ◽  
Susanne Morlot ◽  
Thomas Liehr ◽  
Peter Wieacker
Keyword(s):  
Missense Mutation ◽  
Premature Ovarian Failure ◽  
Reciprocal Translocation ◽  
Ovarian Failure ◽  
Heterozygous Missense Mutation

Combined Occurrence of a Heterozygous Missense Mutation in the Protein C Gene and Allelic Exclusion of One Protein S Allele Leading to Severe Venous Thrombosis

2001 ◽  
Vol 103 (1) ◽  
pp. 3-8 ◽  
Author(s):  
Bernadette Knoll ◽  
Viola Hach-Wunderle ◽  
Sandra Rieger ◽  
Daniela Häring ◽  
Christine Mannhalter
Keyword(s):  
Venous Thrombosis ◽  
Missense Mutation ◽  
Protein C ◽  
Protein S ◽  
Allelic Exclusion ◽  
Heterozygous Missense Mutation ◽  
S Allele

PO32-FR-24 Heterozygous missense mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy or silver syndrome

2009 ◽  
Vol 285 ◽  
pp. S333
Author(s):  
V. Rakocevic Stojanovic ◽  
V. Milic Rasic ◽  
C. Van Broeckhoven ◽  
P. De Jonghe ◽  
E. Nelis ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Heterozygous Missense Mutation ◽  
Hereditary Motor Neuropathy ◽  
Silver Syndrome
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