Publications:

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCG8: 51C>A; Pro17=

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease.

Journal Of Atherosclerosis And Thrombosis

Tada, Hayato H; Nohara, Atsushi A; Inazu, Akihiro A; Sakuma, Nagahiko N; Mabuchi, Hiroshi H; Kawashiri, Masa-Aki MA

Publication Date: 2018-09-01

Variant appearance in text: ABCG8: P17P

PubMed Link: 30033951

Variant Present in the following documents:

• jat-25-783.pdf

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A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.

Bmc Medical Genetics

Pandit, Bhaswati B; Ahn, Gwang-Sook GS; Hazard, Starr E SE; Gordon, Derek D; Patel, Shailendra B SB

Publication Date: 2006-02-28

Variant appearance in text: ABCG8: P17P

PubMed Link: 16507104

Variant Present in the following documents:

• Main text
• 1471-2350-7-13.pdf

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Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.

Clinical Genetics

Solcà, C C; Stanga, Z Z; Pandit, B B; Diem, P P; Greeve, J J; Patel, S B SB

Publication Date: 2005-08

Variant appearance in text: ABCG8: P17P

PubMed Link: 15996216

Variant Present in the following documents:

• Main text

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG8: Pro17Pro

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

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