Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q-Reference-Cited by-同舟云学术

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Mapping of the Locus for Cholestasis-Lymphedema Syndrome (Aagenaes Syndrome) to a 6.6-cM Interval on Chromosome 15q

Published:2000-10 Issue:4 Volume:67 Page:994-999
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Bull Laura N.,Roche Erin,Song Eyun J.,Pedersen Jan,Knisely, A.S.,van der Hagen C.B.,Eiklid Kristin,Aagenaes Øystein,Freimer Nelson B.

Funder

National Institutes of Health

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Hereditary recurrent cholestasis with lymphoedema—two new families;Aagenaes;Acta Paediatr Scand,1974

2. Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome): new cases and follow-up from infancy to adult age;Aagenaes;Scand J Gastroenterol,1998

3. Lymphoedema in hereditary recurrent cholestasis from birth;Aagenaes;Arch Dis Child,1970

4. Hereditary recurrent intrahepatic cholestasis from birth;Aagenaes;Arch Dis Child,1968

5. Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC;Bull;Hum Genet,1999

Cited by 105 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5’-untranslated region of UNC45A;Journal of Hepatology;2023-10

2. Primary lymphoedema;Nature Reviews Disease Primers;2021-10-21

3. Development and physiological functions of the lymphatic system: insights from human genetic studies of primary lymphedema;Physiological Reviews;2021-10-01

4. Pediatric Cholestatic Liver Disease;Pediatric Gastrointestinal and Liver Disease;2021

5. MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors;Pediatric Research;2020-09-15

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