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

International Journal of Dermatology ◽

10.1111/ijd.15296 ◽

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

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

International Journal of Dermatology ◽

10.1111/ijd.15523 ◽

2021 ◽

Author(s):

Min Moon Tang ◽

Uttam Surana ◽

Kin F. Leong ◽

Zacharias Aloysius Dwi Pramano

Keyword(s):

Missense Mutation ◽

Heterozygous Missense Mutation

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A Chinese family with congenital Dysfibrinogenemia carries a heterozygous missense mutation in FGA: Concerning the genetic abnormality and clinical treatment

Pakistan Journal of Medical Sciences ◽

10.12669/pjms.334.12828 ◽

2017 ◽

Vol 33 (4) ◽

Cited By ~ 2

Author(s):

Jihao Zhou ◽

Peng Zhu ◽

Xinyou Zhang

Keyword(s):

Missense Mutation ◽

Clinical Treatment ◽

Chinese Family ◽

Genetic Abnormality ◽

Heterozygous Missense Mutation

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Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin‐deficient congenital muscular dystrophy type 1A

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.23930 ◽

2021 ◽

Author(s):

Afshin Khorrami ◽

Pouya Goleij ◽

Vahidreza Karamad ◽

Elham Taheri ◽

Behrouz Shadman ◽

...

Keyword(s):

Muscular Dystrophy ◽

Missense Mutation ◽

Congenital Muscular Dystrophy ◽

Compound Heterozygous ◽

Heterozygous Missense Mutation

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Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene

Journal of Clinical Neuroscience ◽

10.1016/j.jocn.2018.10.040 ◽

2019 ◽

Vol 60 ◽

pp. 164-166 ◽

Cited By ~ 3

Author(s):

Zhenhua Yuan ◽

Lina Guo ◽

Xixi Liu ◽

Xuewen Xiao ◽

Bin Jiao ◽

...

Keyword(s):

Missense Mutation ◽

Mainland China ◽

Familial Amyloid Polyneuropathy ◽

Chinese Family ◽

Heterozygous Missense Mutation ◽

Amyloid Polyneuropathy

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

Australasian Journal of Dermatology ◽

10.1111/j.1440-0960.2010.00684.x ◽

2010 ◽

Vol 52 (4) ◽

pp. e1-e4 ◽

Cited By ~ 4

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

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

Journal of Endocrinological Investigation ◽

10.1007/bf03345549 ◽

2006 ◽

Vol 29 (3) ◽

pp. 252-256 ◽

Cited By ~ 9

Author(s):

H. Kobayashi ◽

I. Fujisawa ◽

K. Ikeda ◽

C. Son ◽

T. Iwakura ◽

...

Keyword(s):

Diabetes Insipidus ◽

Missense Mutation ◽

Heterozygous Missense Mutation

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Genetic analyses and evaluation of peripheral parameters of thyroid hormone action for the differential diagnosis of RTH. A novel heterozygous missense mutation (M334T) discovered

Journal of Endocrinological Investigation ◽

10.1007/bf03343969 ◽

2002 ◽

Vol 25 (2) ◽

pp. RC4-RC6 ◽

Cited By ~ 3

Author(s):

D. Mannavola ◽

G. Vannucchi ◽

L. Fugazzola ◽

N. Cerutti ◽

L. Persani ◽

...

Keyword(s):

Differential Diagnosis ◽

Thyroid Hormone ◽

Missense Mutation ◽

Hormone Action ◽

Genetic Analyses ◽

Heterozygous Missense Mutation ◽

Thyroid Hormone Action

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

Sexual Development ◽

10.1159/000373906 ◽

2015 ◽

Vol 9 (2) ◽

pp. 86-90 ◽

Cited By ~ 6

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

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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

Thrombosis Research ◽

10.1016/s0049-3848(01)00232-8 ◽

2001 ◽

Vol 103 (1) ◽

pp. 3-8 ◽

Cited By ~ 4

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

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

Journal of the Neurological Sciences ◽

10.1016/s0022-510x(09)71267-5 ◽

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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