Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

Ellen A.C.M. van Beurden; Michelle de Graaf; Udo Wendel; Richard Gitzelmann; Ruud Berger; Inge E.T. van den Berg

doi:10.1006/bbrc.1997.7006

Autosomal Recessive Liver Phosphorylase Kinase Deficiency Caused by a Novel Splice-Site Mutation in the Gene Encoding the Liver Gamma Subunit (PHKG2)

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1997.7006 ◽

1997 ◽

Vol 236 (3) ◽

pp. 544-548 ◽

Cited By ~ 15

Author(s):

Ellen A.C.M. van Beurden ◽

Michelle de Graaf ◽

Udo Wendel ◽

Richard Gitzelmann ◽

Ruud Berger ◽

...

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Phosphorylase Kinase ◽

Site Mutation ◽

Gene Encoding ◽

Gamma Subunit

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A 3' splice site mutation in a nuclear gene encoding a mitochondrial ribosomal protein in Neurospora crassa.

Journal of Biological Chemistry ◽

10.1016/s0021-9258(18)69146-x ◽

1988 ◽

Vol 263 (6) ◽

pp. 2848-2852 ◽

Cited By ~ 2

Author(s):

M T Kuiper ◽

M Holtrop ◽

H Vennema ◽

A M Lambowitz ◽

H de Vries

Keyword(s):

Ribosomal Protein ◽

Neurospora Crassa ◽

Splice Site ◽

Nuclear Gene ◽

Splice Site Mutation ◽

Site Mutation ◽

Gene Encoding ◽

Mitochondrial Ribosomal Protein

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Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review

The Journal of Dermatology ◽

10.1111/1346-8138.14257 ◽

2018 ◽

Vol 45 (5) ◽

pp. 613-617 ◽

Cited By ~ 3

Author(s):

Yukari Mizukami ◽

Ryota Hayashi ◽

Daisuke Tsuruta ◽

Yutaka Shimomura ◽

Koji Sugawara

Keyword(s):

Case Report ◽

Splice Site ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Site Mutation ◽

Woolly Hair

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A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia

Human Genetics ◽

10.1007/s00439-004-1192-9 ◽

2004 ◽

Vol 116 (1-2) ◽

pp. 114-120 ◽

Cited By ~ 13

Author(s):

Samuel Canizales-Quinteros ◽

Carlos A. Aguilar-Salinas ◽

Adriana Huertas-Vázquez ◽

María L. Ordóñez-Sánchez ◽

Maribel Rodríguez-Torres ◽

...

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Site Mutation ◽

Autosomal Recessive Hypercholesterolemia

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An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome

Journal of Clinical Apheresis ◽

10.1002/jca.21549 ◽

2017 ◽

Vol 32 (6) ◽

pp. 584-588

Author(s):

Tina S. Ipe ◽

Jooeun Lim ◽

Meredith Anne Reyes ◽

Mike Ero ◽

Christopher Leveque ◽

...

Keyword(s):

Hemolytic Uremic Syndrome ◽

Splice Site ◽

Atypical Hemolytic Uremic Syndrome ◽

Splice Site Mutation ◽

Complement Factor ◽

Site Mutation ◽

Gene Encoding ◽

Factor I ◽

Complement Factor I ◽

Uremic Syndrome

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197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair

Journal of Investigative Dermatology ◽

10.1016/j.jid.2016.06.216 ◽

2016 ◽

Vol 136 (9) ◽

pp. S194

Author(s):

A. Tanaka ◽

Y. Matsuo ◽

Y. Shimomura ◽

M. Hide

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Japanese Patient ◽

Splice Site Mutation ◽

Site Mutation ◽

Woolly Hair

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A Novel Splice Site Mutation in theEDARGene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family

Pediatric Dermatology ◽

10.1111/j.1525-1470.2009.01062.x ◽

2010 ◽

Vol 27 (1) ◽

pp. 106-108 ◽

Cited By ~ 2

Author(s):

NAVEED WASIF ◽

MUHAMMAD TARIQ ◽

GHAZANFAR ALI ◽

MUHAMMAD JAWAD HASSAN ◽

WASIM AHMAD

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Splice Site Mutation ◽

Pakistani Family ◽

Hypohidrotic Ectodermal Dysplasia ◽

Site Mutation

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Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

British Journal of Dermatology ◽

10.1111/j.1365-2133.2010.09665.x ◽

2010 ◽

Vol 162 (6) ◽

pp. 1384-1387 ◽

Cited By ~ 11

Author(s):

C. Covaciu ◽

M. Castori ◽

N. De Luca ◽

P. Ghirri ◽

A. Nannipieri ◽

...

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Donor Splice Site ◽

Site Mutation ◽

Donor Splice ◽

Epidermolytic Ichthyosis

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Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2006.04.006 ◽

2006 ◽

Vol 16 (7) ◽

pp. 432-436 ◽

Cited By ~ 16

Author(s):

Juliane S. Müller ◽

Henriett Piko ◽

Benedikt G.H. Schoser ◽

Beate Schlotter-Weigel ◽

Peter Reilich ◽

...

Keyword(s):

Muscular Dystrophy ◽

Splice Site ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Limb Girdle Muscular Dystrophy ◽

Site Mutation

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A novelEDARADD5′-splice site mutation resulting in activation of two alternate cryptic 5′-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.37607 ◽

2016 ◽

Vol 170 (6) ◽

pp. 1639-1641 ◽

Cited By ~ 4

Author(s):

Ajay K. Chaudhary ◽

Katta M. Girisha ◽

Murali D. Bashyam

Keyword(s):

Splice Site ◽

Autosomal Recessive ◽

Ectodermal Dysplasia ◽

Splice Site Mutation ◽

Splice Sites ◽

Hypohidrotic Ectodermal Dysplasia ◽

Site Mutation

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Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect

Journal of Human Genetics ◽

10.1038/jhg.2011.72 ◽

2011 ◽

Vol 56 (9) ◽

pp. 631-639 ◽

Cited By ~ 20

Author(s):

Nikolay A Barashkov ◽

Lilya U Dzhemileva ◽

Sardana A Fedorova ◽

Fedor M Teryutin ◽

Olga L Posukh ◽

...

Keyword(s):

Splice Site ◽

Founder Effect ◽

Autosomal Recessive ◽

Splice Site Mutation ◽

Gjb2 Gene ◽

Eastern Siberia ◽

Site Mutation ◽

Yakut Population

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