Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia

Sounak Gupta; Wei Shen; Rafael E. Jimenez; John C. Cheville

doi:10.1002/humu.24268

Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia

Sounak Gupta, Wei Shen, Rafael E. Jimenez, John C. Cheville

Laboratory Medicine and Pathology

Research output: Contribution to journal › Letter › peer-review

Original language	English (US)
Pages (from-to)	1362-1364
Number of pages	3
Journal	Human mutation
Volume	42
Issue number	10
DOIs	https://doi.org/10.1002/humu.24268
State	Published - Oct 2021

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/humu.24268

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title = "Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia",

author = "Sounak Gupta and Wei Shen and Jimenez, {Rafael E.} and Cheville, {John C.}",

year = "2021",

month = oct,

doi = "10.1002/humu.24268",

language = "English (US)",

volume = "42",

pages = "1362--1364",

journal = "Human mutation",

issn = "1059-7794",

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AU - Shen, Wei

AU - Jimenez, Rafael E.

AU - Cheville, John C.

PY - 2021/10

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DO - 10.1002/humu.24268

M3 - Letter

C2 - 34337822

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SN - 1059-7794

VL - 42

SP - 1362

EP - 1364

JO - Human mutation

JF - Human mutation

IS - 10

ER -

Fumarate Hydratase (FH) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patients with renal neoplasia

ASJC Scopus subject areas

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